Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 28191 deletion RAG1, 1-BP DEL, 887A -1 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 na -1 -1 na na 28178 single nucleotide variant NM_000448.2(RAG1):c.2164G>A (p.Glu722Lys) 28933392 MedGen:C1867362 11 36597018 36597018 G A 28178 single nucleotide variant NM_000448.2(RAG1):c.2164G>A (p.Glu722Lys) 28933392 MedGen:C1867362 11 36575468 36575468 G A 28179 single nucleotide variant NM_000448.2(RAG1):c.2320G>T (p.Glu774Ter) 104894282 MedGen:C1867362 11 36597174 36597174 G T 28179 single nucleotide variant NM_000448.2(RAG1):c.2320G>T (p.Glu774Ter) 104894282 MedGen:C1867362 11 36575624 36575624 G T 28180 single nucleotide variant NM_000448.2(RAG1):c.2814T>G (p.Tyr938Ter) 104894283 MedGen:C1867362 11 36597668 36597668 T G 28180 single nucleotide variant NM_000448.2(RAG1):c.2814T>G (p.Tyr938Ter) 104894283 MedGen:C1867362 11 36576118 36576118 T G 28181 single nucleotide variant NM_000448.2(RAG1):c.467C>T (p.Ala156Val) 1801203 - 11 36595321 36595321 C T 28181 single nucleotide variant NM_000448.2(RAG1):c.467C>T (p.Ala156Val) 1801203 - 11 36573771 36573771 C T 28182 single nucleotide variant NM_000448.2(RAG1):c.1682G>A (p.Arg561His) 104894284 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36596536 36596536 G A 28182 single nucleotide variant NM_000448.2(RAG1):c.1682G>A (p.Arg561His) 104894284 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36574986 36574986 G A 28183 single nucleotide variant NM_000448.2(RAG1):c.1186C>T (p.Arg396Cys) 104894289 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN221809 11 36596040 36596040 C T 28183 single nucleotide variant NM_000448.2(RAG1):c.1186C>T (p.Arg396Cys) 104894289 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN221809 11 36574490 36574490 C T 28184 single nucleotide variant NM_000448.2(RAG1):c.2735A>G (p.Tyr912Cys) 104894290 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36597589 36597589 A G 28184 single nucleotide variant NM_000448.2(RAG1):c.2735A>G (p.Tyr912Cys) 104894290 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36576039 36576039 A G 28185 single nucleotide variant NM_000448.2(RAG1):c.1187G>A (p.Arg396His) 104894291 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36596041 36596041 G A 28185 single nucleotide variant NM_000448.2(RAG1):c.1187G>A (p.Arg396His) 104894291 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36574491 36574491 G A 28186 single nucleotide variant NM_000448.2(RAG1):c.1286A>G (p.Asp429Gly) 104894292 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36596140 36596140 A G 28186 single nucleotide variant NM_000448.2(RAG1):c.1286A>G (p.Asp429Gly) 104894292 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36574590 36574590 A G 28187 single nucleotide variant NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) 104894285 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:C1867362 11 36596535 36596535 C T 28187 single nucleotide variant NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) 104894285 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:C1867362 11 36574985 36574985 C T 28188 single nucleotide variant NM_000448.2(RAG1):c.2210G>A (p.Arg737His) 104894286 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949;MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36597064 36597064 G A 28188 single nucleotide variant NM_000448.2(RAG1):c.2210G>A (p.Arg737His) 104894286 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949;MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36575514 36575514 G A 28189 deletion RAG1, 13-BP DEL, NT1723 -1 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 na -1 -1 na na 28190 deletion RAG1, 2-BP DEL, 368AA -1 MedGen:C1835931,OMIM:609889,Orphanet:ORPHA231154;MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 na -1 -1 na na 28192 deletion RAG1, 1-BP DEL, 631T -1 MedGen:C1835931,OMIM:609889,Orphanet:ORPHA231154;MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:C1867362 na -1 -1 na na 28193 single nucleotide variant NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp) 104894287 MedGen:C1835931,OMIM:609889,Orphanet:ORPHA231154 11 36597375 36597375 C T 28193 single nucleotide variant NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp) 104894287 MedGen:C1835931,OMIM:609889,Orphanet:ORPHA231154 11 36575825 36575825 C T 28194 single nucleotide variant NM_000448.2(RAG1):c.2942A>C (p.Gln981Pro) 104894288 MedGen:C1835931,OMIM:609889,Orphanet:ORPHA231154 11 36597796 36597796 A C 28194 single nucleotide variant NM_000448.2(RAG1):c.2942A>C (p.Gln981Pro) 104894288 MedGen:C1835931,OMIM:609889,Orphanet:ORPHA231154 11 36576246 36576246 A C 28195 single nucleotide variant NM_000448.2(RAG1):c.940C>T (p.Arg314Trp) 121918568 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36595794 36595794 C T 28195 single nucleotide variant NM_000448.2(RAG1):c.940C>T (p.Arg314Trp) 121918568 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36574244 36574244 C T 28196 single nucleotide variant NM_000448.2(RAG1):c.1519C>T (p.Arg507Trp) 104894298 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36596373 36596373 C T 28196 single nucleotide variant NM_000448.2(RAG1):c.1519C>T (p.Arg507Trp) 104894298 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36574823 36574823 C T 28197 single nucleotide variant NM_000448.2(RAG1):c.2333G>A (p.Arg778Gln) 121918569 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36597187 36597187 G A 28197 single nucleotide variant NM_000448.2(RAG1):c.2333G>A (p.Arg778Gln) 121918569 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36575637 36575637 G A 28198 single nucleotide variant NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) 121918570 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36597777 36597777 C T 28198 single nucleotide variant NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) 121918570 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36576227 36576227 C T 28199 single nucleotide variant NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) 121918571 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36595837 36595837 G A 28199 single nucleotide variant NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) 121918571 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36574287 36574287 G A 28200 single nucleotide variant NM_000448.2(RAG1):c.2326C>T (p.Arg776Trp) 121918572 MedGen:C1867362 11 36597180 36597180 C T 28200 single nucleotide variant NM_000448.2(RAG1):c.2326C>T (p.Arg776Trp) 121918572 MedGen:C1867362 11 36575630 36575630 C T 38822 deletion RAG1, 1-BP DEL, 1621C -1 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 na -1 -1 na na 45371 single nucleotide variant NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) 193922461 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36596420 36596420 G T 45371 single nucleotide variant NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) 193922461 MedGen:C2673536,OMIM:233650,Orphanet:ORPHA157949 11 36574870 36574870 G T 45372 single nucleotide variant NM_000448.2(RAG1):c.189A>G (p.Pro63=) 34357808 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110 11 36595043 36595043 A G 45372 single nucleotide variant NM_000448.2(RAG1):c.189A>G (p.Pro63=) 34357808 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110 11 36573493 36573493 A G 45373 single nucleotide variant NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) 193922462 MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110 11 36597457 36597457 C T 45373 single nucleotide variant NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) 193922462 MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110 11 36575907 36575907 C T 45374 single nucleotide variant NM_000448.2(RAG1):c.2904C>A (p.Asn968Lys) 193922463 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36597758 36597758 C A 45374 single nucleotide variant NM_000448.2(RAG1):c.2904C>A (p.Asn968Lys) 193922463 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959 11 36576208 36576208 C A 45375 single nucleotide variant NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) 193922464 MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110;MedGen:C1832322,OMIM:601457,Orphanet:ORPHA331206 11 36595176 36595176 C T 45375 single nucleotide variant NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) 193922464 MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110;MedGen:C1832322,OMIM:601457,Orphanet:ORPHA331206 11 36573626 36573626 C T 45376 single nucleotide variant NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) 4151030 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110;MedGen:CN221809;MedGen:CN169374 11 36595760 36595760 C A 45376 single nucleotide variant NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) 4151030 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:C0085110;MedGen:CN221809;MedGen:CN169374 11 36574210 36574210 C A 79568 single nucleotide variant NM_000448.2(RAG1):c.1187G>T (p.Arg396Leu) 104894291 MedGen:CN221809 11 36596041 36596041 G T 79568 single nucleotide variant NM_000448.2(RAG1):c.1187G>T (p.Arg396Leu) 104894291 MedGen:CN221809 11 36574491 36574491 G T 79569 single nucleotide variant NM_000448.2(RAG1):c.1201T>C (p.Ser401Pro) 199474682 MedGen:CN221809 11 36596055 36596055 T C 79569 single nucleotide variant NM_000448.2(RAG1):c.1201T>C (p.Ser401Pro) 199474682 MedGen:CN221809 11 36574505 36574505 T C 79570 single nucleotide variant NM_000448.2(RAG1):c.1229G>A (p.Arg410Gln) 199474684 MedGen:CN221809 11 36596083 36596083 G A 79570 single nucleotide variant NM_000448.2(RAG1):c.1229G>A (p.Arg410Gln) 199474684 MedGen:CN221809 11 36574533 36574533 G A 79571 single nucleotide variant NM_000448.2(RAG1):c.1297G>A (p.Val433Met) 199474679 MedGen:CN221809 11 36596151 36596151 G A 79571 single nucleotide variant NM_000448.2(RAG1):c.1297G>A (p.Val433Met) 199474679 MedGen:CN221809 11 36574601 36574601 G A 79572 single nucleotide variant NM_000448.2(RAG1):c.1303A>G (p.Met435Val) 141524540 MedGen:CN221809 11 36596157 36596157 A G 79572 single nucleotide variant NM_000448.2(RAG1):c.1303A>G (p.Met435Val) 141524540 MedGen:CN221809 11 36574607 36574607 A G 79573 single nucleotide variant NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) 199474685 MedGen:CN221809 11 36596185 36596185 C T 79573 single nucleotide variant NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) 199474685 MedGen:CN221809 11 36574635 36574635 C T 79574 single nucleotide variant NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) 199474677 MedGen:CN221809 11 36596215 36596215 T A 79574 single nucleotide variant NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) 199474677 MedGen:CN221809 11 36574665 36574665 T A 79575 single nucleotide variant NM_000448.2(RAG1):c.1420C>T (p.Arg474Cys) 199474678 MedGen:CN221809 11 36596274 36596274 C T 79575 single nucleotide variant NM_000448.2(RAG1):c.1420C>T (p.Arg474Cys) 199474678 MedGen:CN221809 11 36574724 36574724 C T 79576 single nucleotide variant NM_000448.2(RAG1):c.1421G>A (p.Arg474His) 199474686 MedGen:CN221809 11 36596275 36596275 G A 79576 single nucleotide variant NM_000448.2(RAG1):c.1421G>A (p.Arg474His) 199474686 MedGen:CN221809 11 36574725 36574725 G A 79577 single nucleotide variant NM_000448.2(RAG1):c.1677G>T (p.Arg559Ser) 199474681 MedGen:CN221809 11 36596531 36596531 G T 79577 single nucleotide variant NM_000448.2(RAG1):c.1677G>T (p.Arg559Ser) 199474681 MedGen:CN221809 11 36574981 36574981 G T 79578 single nucleotide variant NM_000448.2(RAG1):c.1870C>T (p.Arg624Cys) 199474688 MedGen:CN221809 11 36596724 36596724 C T 79578 single nucleotide variant NM_000448.2(RAG1):c.1870C>T (p.Arg624Cys) 199474688 MedGen:CN221809 11 36575174 36575174 C T 79579 single nucleotide variant NM_000448.2(RAG1):c.1871G>A (p.Arg624His) 199474680 MedGen:CN221809 11 36596725 36596725 G A 79579 single nucleotide variant NM_000448.2(RAG1):c.1871G>A (p.Arg624His) 199474680 MedGen:CN221809 11 36575175 36575175 G A 79580 single nucleotide variant NM_000448.2(RAG1):c.2006A>G (p.Glu669Gly) 199474689 MedGen:CN221809 11 36596860 36596860 A G 79580 single nucleotide variant NM_000448.2(RAG1):c.2006A>G (p.Glu669Gly) 199474689 MedGen:CN221809 11 36575310 36575310 A G 79581 single nucleotide variant NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) 199474676 MedGen:CN221809 11 36596949 36596949 C T 79581 single nucleotide variant NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) 199474676 MedGen:CN221809 11 36575399 36575399 C T 79582 single nucleotide variant NM_000448.2(RAG1):c.2258A>T (p.His753Leu) 199474687 MedGen:CN221809 11 36597112 36597112 A T 79582 single nucleotide variant NM_000448.2(RAG1):c.2258A>T (p.His753Leu) 199474687 MedGen:CN221809 11 36575562 36575562 A T 79583 single nucleotide variant NM_000448.2(RAG1):c.2564A>T (p.Asn855Ile) 199474690 MedGen:CN221809 11 36597418 36597418 A T 79583 single nucleotide variant NM_000448.2(RAG1):c.2564A>T (p.Asn855Ile) 199474690 MedGen:CN221809 11 36575868 36575868 A T 79584 single nucleotide variant NM_000448.2(RAG1):c.2654T>G (p.Leu885Arg) 199474691 MedGen:CN221809 11 36597508 36597508 T G 79584 single nucleotide variant NM_000448.2(RAG1):c.2654T>G (p.Leu885Arg) 199474691 MedGen:CN221809 11 36575958 36575958 T G 79585 single nucleotide variant NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln) 150739647 MedGen:CN221809 11 36597778 36597778 G A 79585 single nucleotide variant NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln) 150739647 MedGen:CN221809 11 36576228 36576228 G A 79586 single nucleotide variant NM_000448.2(RAG1):c.730A>G (p.Arg244Gly) 199474683 MedGen:CN221809 11 36595584 36595584 A G 79586 single nucleotide variant NM_000448.2(RAG1):c.730A>G (p.Arg244Gly) 199474683 MedGen:CN221809 11 36574034 36574034 A G 142585 single nucleotide variant NM_000448.2(RAG1):c.303G>A (p.Ala101=) 4151025 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MedGen:CN169374 11 36573607 36573607 G A 142585 single nucleotide variant NM_000448.2(RAG1):c.303G>A (p.Ala101=) 4151025 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MedGen:CN169374 11 36595157 36595157 G A 142586 single nucleotide variant NM_000448.2(RAG1):c.746G>A (p.Arg249His) 3740955 MedGen:CN169374 11 36595600 36595600 A A 142586 single nucleotide variant NM_000448.2(RAG1):c.746G>A (p.Arg249His) 3740955 MedGen:CN169374 11 36574050 36574050 A A 142587 single nucleotide variant NM_000448.2(RAG1):c.2638G>A (p.Glu880Lys) 4151033 MedGen:CN169374 11 36575942 36575942 G A 142587 single nucleotide variant NM_000448.2(RAG1):c.2638G>A (p.Glu880Lys) 4151033 MedGen:CN169374 11 36597492 36597492 G A 188823 single nucleotide variant NM_000448.2(RAG1):c.1438A>G (p.Ser480Gly) 772340017 MedGen:CN221809 11 36596292 36596292 A G 188823 single nucleotide variant NM_000448.2(RAG1):c.1438A>G (p.Ser480Gly) 772340017 MedGen:CN221809 11 36574742 36574742 A G 189073 deletion NM_000448.2(RAG1):c.554delG (p.Lys186Serfs) 786205615 MedGen:CN221809 11 36595408 36595408 G - 189073 deletion NM_000448.2(RAG1):c.554delG (p.Lys186Serfs) 786205615 MedGen:CN221809 11 36573858 36573858 G - 236984 single nucleotide variant NM_000448.2(RAG1):c.2005G>A (p.Glu669Lys) 878853004 MedGen:CN221809 11 36596859 36596859 G A 236984 single nucleotide variant NM_000448.2(RAG1):c.2005G>A (p.Glu669Lys) 878853004 MedGen:CN221809 11 36575309 36575309 G A 237096 deletion NM_000448.2(RAG1):c.775delA (p.Ser259Alafs) 878853031 MedGen:CN221809 11 36574079 36574079 A - 237096 deletion NM_000448.2(RAG1):c.775delA (p.Ser259Alafs) 878853031 MedGen:CN221809 11 36595629 36595629 A - 254148 single nucleotide variant NM_000448.2(RAG1):c.1346G>A (p.Arg449Lys) 4151031 MedGen:CN169374 11 36596200 36596200 G A 254148 single nucleotide variant NM_000448.2(RAG1):c.1346G>A (p.Arg449Lys) 4151031 MedGen:CN169374 11 36574650 36574650 G A 254149 single nucleotide variant NM_000448.2(RAG1):c.2459A>G (p.Lys820Arg) 2227973 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MedGen:CN169374 11 36575763 36575763 A G 254149 single nucleotide variant NM_000448.2(RAG1):c.2459A>G (p.Lys820Arg) 2227973 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MedGen:CN169374 11 36597313 36597313 A G 254150 single nucleotide variant NM_000448.2(RAG1):c.2880A>G (p.Ala960=) 1980131 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MedGen:CN169374 11 36576184 36576184 A G 254150 single nucleotide variant NM_000448.2(RAG1):c.2880A>G (p.Ala960=) 1980131 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264;MedGen:CN169374 11 36597734 36597734 A G 264424 indel NM_000448.2(RAG1):c.746delGinsAA (p.Arg249Glnfs) 886041745 MedGen:CN221809 11 36595600 36595600 A AA 264424 indel NM_000448.2(RAG1):c.746delGinsAA (p.Arg249Glnfs) 886041745 MedGen:CN221809 11 36574050 36574050 A AA 269282 deletion NM_000448.2(RAG1):c.256_257delAA (p.Lys86Valfs) 772962160 MedGen:C1832322,OMIM:601457,Orphanet:ORPHA331206 11 36595110 36595111 AA - 269282 deletion NM_000448.2(RAG1):c.256_257delAA (p.Lys86Valfs) 772962160 MedGen:C1832322,OMIM:601457,Orphanet:ORPHA331206 11 36573560 36573561 AA - 313990 single nucleotide variant NM_000448.2(RAG1):c.739C>T (p.Arg247Cys) 147203889 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36574043 36574043 C T 313990 single nucleotide variant NM_000448.2(RAG1):c.739C>T (p.Arg247Cys) 147203889 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595593 36595593 C T 313992 single nucleotide variant NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) 4151034 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36575963 36575963 G A 313992 single nucleotide variant NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) 4151034 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36597513 36597513 G A 313995 single nucleotide variant NM_000448.2(RAG1):c.*200C>T 886048256 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576636 36576636 C T 313995 single nucleotide variant NM_000448.2(RAG1):c.*200C>T 886048256 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598186 36598186 C T 314000 single nucleotide variant NM_000448.2(RAG1):c.*344G>A 886048257 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576780 36576780 G A 314000 single nucleotide variant NM_000448.2(RAG1):c.*344G>A 886048257 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598330 36598330 G A 314002 single nucleotide variant NM_000448.2(RAG1):c.*1083C>T 4151040 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577519 36577519 C T 314002 single nucleotide variant NM_000448.2(RAG1):c.*1083C>T 4151040 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599069 36599069 C T 314012 single nucleotide variant NM_000448.2(RAG1):c.*1101G>A 145963034 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577537 36577537 G A 314012 single nucleotide variant NM_000448.2(RAG1):c.*1101G>A 145963034 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599087 36599087 G A 314013 single nucleotide variant NM_000448.2(RAG1):c.*1562A>G 185464049 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577998 36577998 A G 314013 single nucleotide variant NM_000448.2(RAG1):c.*1562A>G 185464049 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599548 36599548 A G 314014 single nucleotide variant NM_000448.2(RAG1):c.*1705A>G 886048264 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599691 36599691 A G 314014 single nucleotide variant NM_000448.2(RAG1):c.*1705A>G 886048264 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578141 36578141 A G 314015 single nucleotide variant NM_000448.2(RAG1):c.*2308G>A 766934756 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578744 36578744 G A 314015 single nucleotide variant NM_000448.2(RAG1):c.*2308G>A 766934756 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600294 36600294 G A 314019 duplication NM_000448.2(RAG1):c.*2705dupT 886048266 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579141 36579141 T TT 314019 duplication NM_000448.2(RAG1):c.*2705dupT 886048266 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600691 36600691 T TT 314021 deletion NM_000448.2(RAG1):c.*2940_*2943delTAAG 199555129 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579376 36579379 TAAG - 314021 deletion NM_000448.2(RAG1):c.*2940_*2943delTAAG 199555129 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600926 36600929 TAAG - 320368 single nucleotide variant NM_000448.2(RAG1):c.-10C>T 886048251 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573295 36573295 C T 320368 single nucleotide variant NM_000448.2(RAG1):c.-10C>T 886048251 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36594845 36594845 C T 320369 single nucleotide variant NM_000448.2(RAG1):c.152A>T (p.Asp51Val) 147486240 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573456 36573456 A T 320369 single nucleotide variant NM_000448.2(RAG1):c.152A>T (p.Asp51Val) 147486240 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595006 36595006 A T 320387 single nucleotide variant NM_000448.2(RAG1):c.577G>A (p.Glu193Lys) 34841221 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573881 36573881 G A 320387 single nucleotide variant NM_000448.2(RAG1):c.577G>A (p.Glu193Lys) 34841221 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595431 36595431 G A 320393 single nucleotide variant NM_000448.2(RAG1):c.799G>A (p.Ala267Thr) 148393376 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36574103 36574103 G A 320393 single nucleotide variant NM_000448.2(RAG1):c.799G>A (p.Ala267Thr) 148393376 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595653 36595653 G A 320401 single nucleotide variant NM_000448.2(RAG1):c.2626G>A (p.Glu876Lys) 145772007 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36575930 36575930 G A 320401 single nucleotide variant NM_000448.2(RAG1):c.2626G>A (p.Glu876Lys) 145772007 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36597480 36597480 G A 320417 single nucleotide variant NM_000448.2(RAG1):c.2825C>T (p.Thr942Ile) 762625040 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576129 36576129 C T 320417 single nucleotide variant NM_000448.2(RAG1):c.2825C>T (p.Thr942Ile) 762625040 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36597679 36597679 C T 320431 single nucleotide variant NM_000448.2(RAG1):c.*398G>A 4151036 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576834 36576834 G A 320431 single nucleotide variant NM_000448.2(RAG1):c.*398G>A 4151036 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598384 36598384 G A 320432 single nucleotide variant NM_000448.2(RAG1):c.*589G>A 4151038 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577025 36577025 G A 320432 single nucleotide variant NM_000448.2(RAG1):c.*589G>A 4151038 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598575 36598575 G A 320452 single nucleotide variant NM_000448.2(RAG1):c.*739C>T 4151039 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577175 36577175 C T 320452 single nucleotide variant NM_000448.2(RAG1):c.*739C>T 4151039 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598725 36598725 C T 320453 single nucleotide variant NM_000448.2(RAG1):c.*1130A>G 554469239 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577566 36577566 A G 320453 single nucleotide variant NM_000448.2(RAG1):c.*1130A>G 554469239 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599116 36599116 A G 320454 single nucleotide variant NM_000448.2(RAG1):c.*2211C>T 538916870 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600197 36600197 C T 320454 single nucleotide variant NM_000448.2(RAG1):c.*2211C>T 538916870 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578647 36578647 C T 320456 single nucleotide variant NM_000448.2(RAG1):c.*2442G>A 886048265 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578878 36578878 G A 320456 single nucleotide variant NM_000448.2(RAG1):c.*2442G>A 886048265 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600428 36600428 G A 320463 single nucleotide variant NM_000448.2(RAG1):c.*2530G>T 4151047 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578966 36578966 G T 320463 single nucleotide variant NM_000448.2(RAG1):c.*2530G>T 4151047 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600516 36600516 G T 320474 deletion NM_000448.2(RAG1):c.*3122delT 141384582 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579558 36579558 T - 320474 deletion NM_000448.2(RAG1):c.*3122delT 141384582 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36601108 36601108 T - 326350 single nucleotide variant NM_000448.2(RAG1):c.-114G>A 872052 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36568023 36568023 G A 326350 single nucleotide variant NM_000448.2(RAG1):c.-114G>A 872052 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36589573 36589573 G A 326360 single nucleotide variant NM_000448.2(RAG1):c.-65A>G 872053 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36568072 36568072 A G 326360 single nucleotide variant NM_000448.2(RAG1):c.-65A>G 872053 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36589622 36589622 A G 326369 single nucleotide variant NM_000448.2(RAG1):c.-15+12A>G 190968516 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36568134 36568134 A G 326369 single nucleotide variant NM_000448.2(RAG1):c.-15+12A>G 190968516 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36589684 36589684 A G 326374 single nucleotide variant NM_000448.2(RAG1):c.382C>T (p.Pro128Ser) 886048252 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573686 36573686 C T 326374 single nucleotide variant NM_000448.2(RAG1):c.382C>T (p.Pro128Ser) 886048252 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595236 36595236 C T 326377 single nucleotide variant NM_000448.2(RAG1):c.592A>C (p.Arg198=) 746425890 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573896 36573896 A C 326377 single nucleotide variant NM_000448.2(RAG1):c.592A>C (p.Arg198=) 746425890 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595446 36595446 A C 326378 single nucleotide variant NM_000448.2(RAG1):c.653G>A (p.Arg218His) 202178215 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573957 36573957 G A 326378 single nucleotide variant NM_000448.2(RAG1):c.653G>A (p.Arg218His) 202178215 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595507 36595507 G A 326380 single nucleotide variant NM_000448.2(RAG1):c.1367C>A (p.Ala456Asp) 201779957 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36574671 36574671 C A 326380 single nucleotide variant NM_000448.2(RAG1):c.1367C>A (p.Ala456Asp) 201779957 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36596221 36596221 C A 326382 single nucleotide variant NM_000448.2(RAG1):c.2426A>G (p.Lys809Arg) 773703055 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36575730 36575730 A G 326382 single nucleotide variant NM_000448.2(RAG1):c.2426A>G (p.Lys809Arg) 773703055 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36597280 36597280 A G 326384 single nucleotide variant NM_000448.2(RAG1):c.2751G>A (p.Gln917=) 150721661 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576055 36576055 G A 326384 single nucleotide variant NM_000448.2(RAG1):c.2751G>A (p.Gln917=) 150721661 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36597605 36597605 G A 326399 single nucleotide variant NM_000448.2(RAG1):c.*1701T>C 886048263 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599687 36599687 T C 326399 single nucleotide variant NM_000448.2(RAG1):c.*1701T>C 886048263 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578137 36578137 T C 326401 single nucleotide variant NM_000448.2(RAG1):c.*2289T>G 200013770 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600275 36600275 T G 326401 single nucleotide variant NM_000448.2(RAG1):c.*2289T>G 200013770 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578725 36578725 T G 327380 single nucleotide variant NM_000448.2(RAG1):c.1A>G (p.Met1Val) 200575481 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573305 36573305 A G 327380 single nucleotide variant NM_000448.2(RAG1):c.1A>G (p.Met1Val) 200575481 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36594855 36594855 A G 327381 single nucleotide variant NM_000448.2(RAG1):c.37T>G (p.Ser13Ala) 760746448 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36573341 36573341 T G 327381 single nucleotide variant NM_000448.2(RAG1):c.37T>G (p.Ser13Ala) 760746448 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36594891 36594891 T G 327390 single nucleotide variant NM_000448.2(RAG1):c.1077A>G (p.Pro359=) 886048253 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36574381 36574381 A G 327390 single nucleotide variant NM_000448.2(RAG1):c.1077A>G (p.Pro359=) 886048253 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36595931 36595931 A G 327392 single nucleotide variant NM_000448.2(RAG1):c.2110A>G (p.Ile704Val) 886048254 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36575414 36575414 A G 327392 single nucleotide variant NM_000448.2(RAG1):c.2110A>G (p.Ile704Val) 886048254 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36596964 36596964 A G 327406 single nucleotide variant NM_000448.2(RAG1):c.2968G>A (p.Val990Ile) 886048255 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576272 36576272 G A 327406 single nucleotide variant NM_000448.2(RAG1):c.2968G>A (p.Val990Ile) 886048255 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36597822 36597822 G A 327407 single nucleotide variant NM_000448.2(RAG1):c.*238G>A 4151035 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576674 36576674 G A 327407 single nucleotide variant NM_000448.2(RAG1):c.*238G>A 4151035 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598224 36598224 G A 327408 single nucleotide variant NM_000448.2(RAG1):c.*370G>T 569692485 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576806 36576806 G T 327408 single nucleotide variant NM_000448.2(RAG1):c.*370G>T 569692485 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598356 36598356 G T 327410 deletion NM_000448.2(RAG1):c.*386delT 886048258 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598372 36598372 T - 327410 deletion NM_000448.2(RAG1):c.*386delT 886048258 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36576822 36576822 T - 327412 single nucleotide variant NM_000448.2(RAG1):c.*766A>G 886048259 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577202 36577202 A G 327412 single nucleotide variant NM_000448.2(RAG1):c.*766A>G 886048259 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598752 36598752 A G 327417 duplication NM_000448.2(RAG1):c.*834dupA 886048260 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577270 36577270 A AA 327417 duplication NM_000448.2(RAG1):c.*834dupA 886048260 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598820 36598820 A AA 327426 single nucleotide variant NM_000448.2(RAG1):c.*856C>A 886048261 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577292 36577292 C A 327426 single nucleotide variant NM_000448.2(RAG1):c.*856C>A 886048261 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36598842 36598842 C A 327430 single nucleotide variant NM_000448.2(RAG1):c.*1366A>G 371127461 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36577802 36577802 A G 327430 single nucleotide variant NM_000448.2(RAG1):c.*1366A>G 371127461 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599352 36599352 A G 327431 single nucleotide variant NM_000448.2(RAG1):c.*1611G>A 886048262 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36599597 36599597 G A 327431 single nucleotide variant NM_000448.2(RAG1):c.*1611G>A 886048262 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578047 36578047 G A 327441 single nucleotide variant NM_000448.2(RAG1):c.*2246T>C 4151045 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600232 36600232 T C 327441 single nucleotide variant NM_000448.2(RAG1):c.*2246T>C 4151045 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36578682 36578682 T C 327443 single nucleotide variant NM_000448.2(RAG1):c.*2599A>C 375155856 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579035 36579035 A C 327443 single nucleotide variant NM_000448.2(RAG1):c.*2599A>C 375155856 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36600585 36600585 A C 327444 single nucleotide variant NM_000448.2(RAG1):c.*3058A>G 746468007 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579494 36579494 A G 327444 single nucleotide variant NM_000448.2(RAG1):c.*3058A>G 746468007 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36601044 36601044 A G 327446 single nucleotide variant NM_000448.2(RAG1):c.*3156A>G 183729240 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579592 36579592 A G 327446 single nucleotide variant NM_000448.2(RAG1):c.*3156A>G 183729240 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36601142 36601142 A G 327450 single nucleotide variant NM_000448.2(RAG1):c.*3184G>A 1056403 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579620 36579620 G A 327450 single nucleotide variant NM_000448.2(RAG1):c.*3184G>A 1056403 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36601170 36601170 G A 353188 single nucleotide variant NM_000448.2(RAG1):c.*3331A>G 2673017 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36601317 36601317 A G 353188 single nucleotide variant NM_000448.2(RAG1):c.*3331A>G 2673017 MedGen:C1801959,OMIM:603554,SNOMED CT:C1801959;MedGen:CN239264 11 36579767 36579767 A G 359878 single nucleotide variant NM_000448.2(RAG1):c.527G>T (p.Cys176Phe) 149229197 MedGen:CN221809 11 36573831 36573831 G T 359878 single nucleotide variant NM_000448.2(RAG1):c.527G>T (p.Cys176Phe) 149229197 MedGen:CN221809 11 36595381 36595381 G T 359938 single nucleotide variant NM_000448.2(RAG1):c.2974A>G (p.Lys992Glu) 539590514 MedGen:CN221809 11 36576278 36576278 A G 359938 single nucleotide variant NM_000448.2(RAG1):c.2974A>G (p.Lys992Glu) 539590514 MedGen:CN221809 11 36597828 36597828 A G 359941 single nucleotide variant NM_000448.2(RAG1):c.2981A>G (p.His994Arg) 775412266 MedGen:CN221809 11 36597835 36597835 A G 359941 single nucleotide variant NM_000448.2(RAG1):c.2981A>G (p.His994Arg) 775412266 MedGen:CN221809 11 36576285 36576285 A G

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 11 36596427 rs4151032 C T rs4151032 0.00019 Breast cancer (ER positive) HPOID:0003002 DOID:1612 C missense GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000166349.9 RAG1 179615