Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20279 deletion TRIM37, 5-BP DEL, NT493 -1 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 na -1 -1 na na 20280 deletion TRIM37, 1-BP DEL, 2212G -1 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 na -1 -1 na na 20281 deletion TRIM37, 5-BP DEL, NT838 -1 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 na -1 -1 na na 20282 insertion TRIM37, 1-BP INS, 1346A -1 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 na -1 -1 na na 20283 deletion TRIM37, 8-BP DEL, NT855 -1 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 na -1 -1 na na 20284 single nucleotide variant NM_001005207.3(TRIM37):c.326G>C (p.Cys109Ser) 121908391 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57161406 57161406 C G 20284 single nucleotide variant NM_001005207.3(TRIM37):c.326G>C (p.Cys109Ser) 121908391 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59084045 59084045 C G 20285 single nucleotide variant NM_015294.4(TRIM37):c.860G>A (p.Ser287Asn) 386834008 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57141716 57141716 C T 20285 single nucleotide variant NM_015294.4(TRIM37):c.860G>A (p.Ser287Asn) 386834008 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59064355 59064355 C T 71202 duplication NM_015294.4(TRIM37):c.1037_1040dupAGAT (p.Met347Ilefs) 386833999 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57134395 57134398 ATCT ATCTATCT 71202 duplication NM_015294.4(TRIM37):c.1037_1040dupAGAT (p.Met347Ilefs) 386833999 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59057034 59057037 ATCT ATCTATCT 71203 duplication NM_015294.4(TRIM37):c.1346dupA (p.Ser450Valfs) 386834000 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57126723 57126723 T TT 71203 duplication NM_015294.4(TRIM37):c.1346dupA (p.Ser450Valfs) 386834000 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59049362 59049362 T TT 71204 single nucleotide variant NM_015294.4(TRIM37):c.1411C>T (p.Arg471Ter) 386834001 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57126658 57126658 G A 71204 single nucleotide variant NM_015294.4(TRIM37):c.1411C>T (p.Arg471Ter) 386834001 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59049297 59049297 G A 71205 deletion NM_015294.4(TRIM37):c.1894_1895delGA (p.Glu632Lysfs) 386834002 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57109310 57109311 TC - 71205 deletion NM_015294.4(TRIM37):c.1894_1895delGA (p.Glu632Lysfs) 386834002 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59031949 59031950 TC - 71206 single nucleotide variant NM_015294.4(TRIM37):c.2056C>T (p.Arg686Ter) 386834003 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57105977 57105977 G A 71206 single nucleotide variant NM_015294.4(TRIM37):c.2056C>T (p.Arg686Ter) 386834003 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59028616 59028616 G A 71207 deletion NM_015294.4(TRIM37):c.2212delG (p.Glu738Asnfs) 386833416 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57105821 57105821 C - 71207 deletion NM_015294.4(TRIM37):c.2212delG (p.Glu738Asnfs) 386833416 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59028460 59028460 C - 71208 single nucleotide variant NM_015294.4(TRIM37):c.227T>C (p.Leu76Pro) 386834004 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57165706 57165706 A G 71208 single nucleotide variant NM_015294.4(TRIM37):c.227T>C (p.Leu76Pro) 386834004 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59088345 59088345 A G 71209 single nucleotide variant NM_015294.4(TRIM37):c.745C>T (p.Gln249Ter) 386834005 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57148248 57148248 G A 71209 single nucleotide variant NM_015294.4(TRIM37):c.745C>T (p.Gln249Ter) 386834005 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59070887 59070887 G A 71210 single nucleotide variant NM_015294.4(TRIM37):c.810-1G>A 386834006 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57141767 57141767 C T 71210 single nucleotide variant NM_015294.4(TRIM37):c.810-1G>A 386834006 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59064406 59064406 C T 71211 deletion NM_015294.4(TRIM37):c.838_842delACTTT (p.Thr280Cysfs) 386834007 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57141734 57141738 AAAGT - 71211 deletion NM_015294.4(TRIM37):c.838_842delACTTT (p.Thr280Cysfs) 386834007 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59064373 59064377 AAAGT - 71213 single nucleotide variant NM_015294.4(TRIM37):c.965G>T (p.Gly322Val) 386834009 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57138447 57138447 C A 71213 single nucleotide variant NM_015294.4(TRIM37):c.965G>T (p.Gly322Val) 386834009 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59061086 59061086 C A 191255 single nucleotide variant NM_001005207.3(TRIM37):c.950A>G (p.Asn317Ser) 794727067 MedGen:CN169374 17 57138462 57138462 T C 191255 single nucleotide variant NM_001005207.3(TRIM37):c.950A>G (p.Asn317Ser) 794727067 MedGen:CN169374 17 59061101 59061101 T C 191256 single nucleotide variant NM_001005207.3(TRIM37):c.1015T>A (p.Ser339Thr) 794727068 MedGen:CN169374 17 57138397 57138397 A T 191256 single nucleotide variant NM_001005207.3(TRIM37):c.1015T>A (p.Ser339Thr) 794727068 MedGen:CN169374 17 59061036 59061036 A T 192133 single nucleotide variant NM_015294.4(TRIM37):c.2049C>T (p.Ala683=) 35871562 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582;MedGen:CN169374 17 57105984 57105984 G A 192133 single nucleotide variant NM_015294.4(TRIM37):c.2049C>T (p.Ala683=) 35871562 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582;MedGen:CN169374 17 59028623 59028623 G A 195377 single nucleotide variant NM_001005207.3(TRIM37):c.398C>T (p.Ala133Val) 61758100 MedGen:CN169374 17 57158552 57158552 G A 195377 single nucleotide variant NM_001005207.3(TRIM37):c.398C>T (p.Ala133Val) 61758100 MedGen:CN169374 17 59081191 59081191 G A 260188 single nucleotide variant NM_015294.4(TRIM37):c.2696-2A>G 886039445 MedGen:CN221809 17 57079077 57079077 T C 260188 single nucleotide variant NM_015294.4(TRIM37):c.2696-2A>G 886039445 MedGen:CN221809 17 59001716 59001716 T C 265374 single nucleotide variant NM_015294.4(TRIM37):c.1919G>A (p.Arg640His) 112762655 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582;MedGen:CN169374 17 57109286 57109286 C T 265374 single nucleotide variant NM_015294.4(TRIM37):c.1919G>A (p.Arg640His) 112762655 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582;MedGen:CN169374 17 59031925 59031925 C T 265891 single nucleotide variant NM_015294.4(TRIM37):c.2577-7C>G 199694001 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582;MedGen:CN169374 17 57089814 57089814 G C 265891 single nucleotide variant NM_015294.4(TRIM37):c.2577-7C>G 199694001 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582;MedGen:CN169374 17 59012453 59012453 G C 267179 single nucleotide variant NM_001005207.3(TRIM37):c.2401T>C (p.Ser801Pro) 770160154 MedGen:CN169374 17 59015785 59015785 A G 267179 single nucleotide variant NM_001005207.3(TRIM37):c.2401T>C (p.Ser801Pro) 770160154 MedGen:CN169374 17 57093146 57093146 A G 270029 single nucleotide variant NM_001005207.3(TRIM37):c.2240A>G (p.Asn747Ser) 143613788 MedGen:CN169374 17 57105793 57105793 T C 270029 single nucleotide variant NM_001005207.3(TRIM37):c.2240A>G (p.Asn747Ser) 143613788 MedGen:CN169374 17 59028432 59028432 T C 274928 single nucleotide variant NM_001005207.3(TRIM37):c.513A>T (p.Val171=) 886044533 MedGen:CN169374 17 57157218 57157218 T A 274928 single nucleotide variant NM_001005207.3(TRIM37):c.513A>T (p.Val171=) 886044533 MedGen:CN169374 17 59079857 59079857 T A 329163 single nucleotide variant NM_015294.4(TRIM37):c.*759T>C 191702204 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998618 58998618 A G 329163 single nucleotide variant NM_015294.4(TRIM37):c.*759T>C 191702204 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57075979 57075979 A G 329167 single nucleotide variant NM_015294.4(TRIM37):c.*622T>C 886053172 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998755 58998755 A G 329167 single nucleotide variant NM_015294.4(TRIM37):c.*622T>C 886053172 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076116 57076116 A G 329168 single nucleotide variant NM_015294.4(TRIM37):c.2754T>C (p.His918=) 746826852 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59001656 59001656 A G 329168 single nucleotide variant NM_015294.4(TRIM37):c.2754T>C (p.His918=) 746826852 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57079017 57079017 A G 329172 single nucleotide variant NM_015294.4(TRIM37):c.1446C>T (p.Leu482=) 774383633 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59049262 59049262 G A 329172 single nucleotide variant NM_015294.4(TRIM37):c.1446C>T (p.Leu482=) 774383633 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57126623 57126623 G A 329174 single nucleotide variant NM_015294.4(TRIM37):c.1178A>G (p.Gln393Arg) 761341418 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59056896 59056896 T C 329174 single nucleotide variant NM_015294.4(TRIM37):c.1178A>G (p.Gln393Arg) 761341418 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57134257 57134257 T C 329175 deletion NM_015294.4(TRIM37):c.943-7_943-5delCTT 886053177 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59061113 59061115 AAG - 329175 deletion NM_015294.4(TRIM37):c.943-7_943-5delCTT 886053177 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57138474 57138476 AAG - 329186 single nucleotide variant NM_015294.4(TRIM37):c.828C>T (p.Tyr276=) 776019614 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59064387 59064387 G A 329186 single nucleotide variant NM_015294.4(TRIM37):c.828C>T (p.Tyr276=) 776019614 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57141748 57141748 G A 329188 deletion NM_015294.4(TRIM37):c.810-3delT 367700401 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59064408 59064408 A - 329188 deletion NM_015294.4(TRIM37):c.810-3delT 367700401 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57141769 57141769 A - 329193 single nucleotide variant NM_015294.4(TRIM37):c.-230C>T 886053180 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106691 59106691 G A 329193 single nucleotide variant NM_015294.4(TRIM37):c.-230C>T 886053180 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184052 57184052 G A 329198 single nucleotide variant NM_015294.4(TRIM37):c.-334C>G 886053182 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106795 59106795 G C 329198 single nucleotide variant NM_015294.4(TRIM37):c.-334C>G 886053182 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184156 57184156 G C 329200 single nucleotide variant NM_015294.4(TRIM37):c.-340T>G 7503190 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106801 59106801 A C 329200 single nucleotide variant NM_015294.4(TRIM37):c.-340T>G 7503190 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184162 57184162 A C 339322 single nucleotide variant NM_015294.4(TRIM37):c.*1084C>T 12451581 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998293 58998293 G A 339322 single nucleotide variant NM_015294.4(TRIM37):c.*1084C>T 12451581 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57075654 57075654 G A 339324 single nucleotide variant NM_015294.4(TRIM37):c.*1025A>G 914 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998352 58998352 T C 339324 single nucleotide variant NM_015294.4(TRIM37):c.*1025A>G 914 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57075713 57075713 T C 339328 single nucleotide variant NM_015294.4(TRIM37):c.*634A>T 28475409 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076104 57076104 T A 339328 single nucleotide variant NM_015294.4(TRIM37):c.*634A>T 28475409 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998743 58998743 T A 339332 single nucleotide variant NM_015294.4(TRIM37):c.*381T>C 886053173 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998996 58998996 A G 339332 single nucleotide variant NM_015294.4(TRIM37):c.*381T>C 886053173 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076357 57076357 A G 339335 single nucleotide variant NM_015294.4(TRIM37):c.2776G>T (p.Asp926Tyr) 375437566 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59001634 59001634 C A 339335 single nucleotide variant NM_015294.4(TRIM37):c.2776G>T (p.Asp926Tyr) 375437566 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57078995 57078995 C A 339344 single nucleotide variant NM_015294.4(TRIM37):c.2512G>A (p.Val838Ile) 7222388 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59015674 59015674 C T 339344 single nucleotide variant NM_015294.4(TRIM37):c.2512G>A (p.Val838Ile) 7222388 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57093035 57093035 C T 339356 single nucleotide variant NM_015294.4(TRIM37):c.2487G>T (p.Gln829His) 886053176 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59015699 59015699 C A 339356 single nucleotide variant NM_015294.4(TRIM37):c.2487G>T (p.Gln829His) 886053176 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57093060 57093060 C A 339358 single nucleotide variant NM_015294.4(TRIM37):c.1264T>C (p.Leu422=) 74586224 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57128625 57128625 A G 339358 single nucleotide variant NM_015294.4(TRIM37):c.1264T>C (p.Leu422=) 74586224 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59051264 59051264 A G 339364 single nucleotide variant NM_015294.4(TRIM37):c.1200-11A>G 781195873 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59051339 59051339 T C 339364 single nucleotide variant NM_015294.4(TRIM37):c.1200-11A>G 781195873 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57128700 57128700 T C 339365 single nucleotide variant NM_015294.4(TRIM37):c.861-6C>T 145324030 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59062654 59062654 G A 339365 single nucleotide variant NM_015294.4(TRIM37):c.861-6C>T 145324030 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57140015 57140015 G A 339367 duplication NM_015294.4(TRIM37):c.810-3dupT 546873621 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59064408 59064408 A AA 339367 duplication NM_015294.4(TRIM37):c.810-3dupT 546873621 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57141769 57141769 A AA 339372 single nucleotide variant NM_015294.4(TRIM37):c.-18C>T 779613026 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106479 59106479 G A 339372 single nucleotide variant NM_015294.4(TRIM37):c.-18C>T 779613026 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57183840 57183840 G A 339373 single nucleotide variant NM_015294.4(TRIM37):c.-228C>G 886053179 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106689 59106689 G C 339373 single nucleotide variant NM_015294.4(TRIM37):c.-228C>G 886053179 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184050 57184050 G C 339376 single nucleotide variant NM_015294.4(TRIM37):c.-335T>A 886053183 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106796 59106796 A T 339376 single nucleotide variant NM_015294.4(TRIM37):c.-335T>A 886053183 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184157 57184157 A T 339388 single nucleotide variant NM_015294.4(TRIM37):c.-419G>T 549763737 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106880 59106880 C A 339388 single nucleotide variant NM_015294.4(TRIM37):c.-419G>T 549763737 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184241 57184241 C A 345190 single nucleotide variant NM_015294.4(TRIM37):c.*961A>G 3826354 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998416 58998416 T C 345190 single nucleotide variant NM_015294.4(TRIM37):c.*961A>G 3826354 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57075777 57075777 T C 345192 single nucleotide variant NM_015294.4(TRIM37):c.*369C>T 375182197 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58999008 58999008 G A 345192 single nucleotide variant NM_015294.4(TRIM37):c.*369C>T 375182197 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076369 57076369 G A 345193 single nucleotide variant NM_015294.4(TRIM37):c.*344G>A 886053174 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58999033 58999033 C T 345193 single nucleotide variant NM_015294.4(TRIM37):c.*344G>A 886053174 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076394 57076394 C T 345194 single nucleotide variant NM_015294.4(TRIM37):c.*235G>A 779555532 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58999142 58999142 C T 345194 single nucleotide variant NM_015294.4(TRIM37):c.*235G>A 779555532 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076503 57076503 C T 345195 single nucleotide variant NM_015294.4(TRIM37):c.*172C>T 142113543 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58999205 58999205 G A 345195 single nucleotide variant NM_015294.4(TRIM37):c.*172C>T 142113543 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076566 57076566 G A 345198 single nucleotide variant NM_015294.4(TRIM37):c.2676T>G (p.Ala892=) 886053175 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59012347 59012347 A C 345198 single nucleotide variant NM_015294.4(TRIM37):c.2676T>G (p.Ala892=) 886053175 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57089708 57089708 A C 345202 single nucleotide variant NM_015294.4(TRIM37):c.1748C>A (p.Pro583His) 147363016 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59041818 59041818 G T 345202 single nucleotide variant NM_015294.4(TRIM37):c.1748C>A (p.Pro583His) 147363016 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57119179 57119179 G T 345206 single nucleotide variant NM_015294.4(TRIM37):c.398C>G (p.Ala133Gly) 61758100 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59081191 59081191 G C 345206 single nucleotide variant NM_015294.4(TRIM37):c.398C>G (p.Ala133Gly) 61758100 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57158552 57158552 G C 345209 single nucleotide variant NM_015294.4(TRIM37):c.-139G>A 886053178 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106600 59106600 C T 345209 single nucleotide variant NM_015294.4(TRIM37):c.-139G>A 886053178 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57183961 57183961 C T 345212 single nucleotide variant NM_015294.4(TRIM37):c.-296G>T 886053181 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106757 59106757 C A 345212 single nucleotide variant NM_015294.4(TRIM37):c.-296G>T 886053181 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184118 57184118 C A 345216 single nucleotide variant NM_015294.4(TRIM37):c.-365G>A 781390565 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106826 59106826 C T 345216 single nucleotide variant NM_015294.4(TRIM37):c.-365G>A 781390565 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184187 57184187 C T 345218 single nucleotide variant NM_015294.4(TRIM37):c.-389G>T 886053184 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106850 59106850 C A 345218 single nucleotide variant NM_015294.4(TRIM37):c.-389G>T 886053184 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184211 57184211 C A 346593 deletion NM_015294.4(TRIM37):c.*977delC 112918162 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998400 58998400 G - 346593 deletion NM_015294.4(TRIM37):c.*977delC 112918162 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57075761 57075761 G - 346597 single nucleotide variant NM_015294.4(TRIM37):c.*836A>G 142111745 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998541 58998541 T C 346597 single nucleotide variant NM_015294.4(TRIM37):c.*836A>G 142111745 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57075902 57075902 T C 346598 single nucleotide variant NM_015294.4(TRIM37):c.*658A>G 553012670 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 58998719 58998719 T C 346598 single nucleotide variant NM_015294.4(TRIM37):c.*658A>G 553012670 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57076080 57076080 T C 346599 single nucleotide variant NM_015294.4(TRIM37):c.2544G>A (p.Ala848=) 532325984 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59015642 59015642 C T 346599 single nucleotide variant NM_015294.4(TRIM37):c.2544G>A (p.Ala848=) 532325984 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57093003 57093003 C T 346600 single nucleotide variant NM_015294.4(TRIM37):c.2430C>T (p.Pro810=) 147639509 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59015756 59015756 G A 346600 single nucleotide variant NM_015294.4(TRIM37):c.2430C>T (p.Pro810=) 147639509 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57093117 57093117 G A 346602 single nucleotide variant NM_015294.4(TRIM37):c.2316A>G (p.Leu772=) 765983264 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59017366 59017366 T C 346602 single nucleotide variant NM_015294.4(TRIM37):c.2316A>G (p.Leu772=) 765983264 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57094727 57094727 T C 346606 single nucleotide variant NM_015294.4(TRIM37):c.1815C>T (p.Ser605=) 142101613 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59032029 59032029 G A 346606 single nucleotide variant NM_015294.4(TRIM37):c.1815C>T (p.Ser605=) 142101613 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57109390 57109390 G A 346608 single nucleotide variant NM_015294.4(TRIM37):c.-203C>A 182346107 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106664 59106664 G T 346608 single nucleotide variant NM_015294.4(TRIM37):c.-203C>A 182346107 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184025 57184025 G T 346611 single nucleotide variant NM_015294.4(TRIM37):c.-224A>G 11541295 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106685 59106685 T C 346611 single nucleotide variant NM_015294.4(TRIM37):c.-224A>G 11541295 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184046 57184046 T C 346617 single nucleotide variant NM_015294.4(TRIM37):c.-236A>G 371575547 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106697 59106697 T C 346617 single nucleotide variant NM_015294.4(TRIM37):c.-236A>G 371575547 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184058 57184058 T C 353446 duplication NM_001005207.3(TRIM37):c.-449dupC 35129177 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 57184271 57184271 G GG 353446 duplication NM_001005207.3(TRIM37):c.-449dupC 35129177 MedGen:C0524582,OMIM:253250,Orphanet:ORPHA2576,SNOMED CT:C0524582 17 59106910 59106910 G GG

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 17 57064167 rs6503890 A G rs6503890 9.16E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G intron GWASdb_trait 17 57072701 rs8081967 T C rs8081967 1.67E-14 Circulating myeloperoxidase levels (serum) HPOID:0001677 DOID:3393 C intron GWASdb_trait 17 57072701 rs8081967 T C rs8081967 2.13E-06 Circulating myeloperoxidase levels (serum) HPOID:0001677 DOID:3393 C intron GWASdb_trait 17 57139134 rs2333409 G A rs2333409 7.35E-05 Dental caries HPOID:0000670 DOID:216 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000108395.13 TRIM37 605073