Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23147 single nucleotide variant NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu) 104893941 MedGen:CN231386,OMIM:616437;MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;Gene:5131,MedGen:CN032130,OMIM:167250 5 179263445 179263445 C T 23147 single nucleotide variant NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu) 104893941 MedGen:CN231386,OMIM:616437;MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;Gene:5131,MedGen:CN032130,OMIM:167250 5 179836445 179836445 C T 23148 duplication NM_003900.4(SQSTM1):c.1224dupT (p.Glu409Terfs) 796051869 Gene:5131,MedGen:CN032130,OMIM:167250 5 179836494 179836494 T TT 23148 duplication NM_003900.4(SQSTM1):c.1224dupT (p.Glu409Terfs) 796051869 Gene:5131,MedGen:CN032130,OMIM:167250 5 179263494 179263494 T TT 23149 single nucleotide variant NM_003900.4(SQSTM1):c.970_1165del 796051870 MedGen:C1853926,OMIM:605820,Orphanet:ORPHA602;Gene:5131,MedGen:CN032130,OMIM:167250 5 179833783 179833783 G A 23149 single nucleotide variant NM_003900.4(SQSTM1):c.970_1165del 796051870 MedGen:C1853926,OMIM:605820,Orphanet:ORPHA602;Gene:5131,MedGen:CN032130,OMIM:167250 5 179260783 179260783 G A 198651 single nucleotide variant NM_003900.4(SQSTM1):c.1132A>T (p.Lys378Ter) 796052213 Gene:5131,MedGen:CN032130,OMIM:167250 5 179833749 179833749 A T 198651 single nucleotide variant NM_003900.4(SQSTM1):c.1132A>T (p.Lys378Ter) 796052213 Gene:5131,MedGen:CN032130,OMIM:167250 5 179260749 179260749 A T 198652 single nucleotide variant NM_003900.4(SQSTM1):c.1160C>T (p.Pro387Leu) 776749939 MedGen:CN231386,OMIM:616437 5 179833777 179833777 C T 198652 single nucleotide variant NM_003900.4(SQSTM1):c.1160C>T (p.Pro387Leu) 776749939 MedGen:CN231386,OMIM:616437 5 179260777 179260777 C T 198653 single nucleotide variant NM_001142298.1(SQSTM1):c.98C>T (p.Ala33Val) 147810437 MedGen:CN169374 5 179823906 179823906 C T 198653 single nucleotide variant NM_001142298.1(SQSTM1):c.98C>T (p.Ala33Val) 147810437 MedGen:CN169374 5 179250906 179250906 C T 198654 deletion NM_003900.4(SQSTM1):c.714_716delGAA (p.Lys238del) 796052214 MedGen:CN231386,OMIM:616437 5 179825186 179825188 GAA - 198654 deletion NM_003900.4(SQSTM1):c.714_716delGAA (p.Lys238del) 796052214 MedGen:CN231386,OMIM:616437 5 179252186 179252188 GAA - 247436 single nucleotide variant NM_001142298.1(SQSTM1):c.-47-1924C>T 200396166 MedGen:CN231386,OMIM:616437 5 179821034 179821034 C T 247436 single nucleotide variant NM_001142298.1(SQSTM1):c.-47-1924C>T 200396166 MedGen:CN231386,OMIM:616437 5 179248034 179248034 C T 251872 single nucleotide variant NM_003900.4(SQSTM1):c.822G>C (p.Glu274Asp) 55793208 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179260099 179260099 G C 251872 single nucleotide variant NM_003900.4(SQSTM1):c.822G>C (p.Glu274Asp) 55793208 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179833099 179833099 G C 251873 single nucleotide variant NM_003900.4(SQSTM1):c.876C>T (p.Asp292=) 4935 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179833153 179833153 C T 251873 single nucleotide variant NM_003900.4(SQSTM1):c.876C>T (p.Asp292=) 4935 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179260153 179260153 C T 251874 single nucleotide variant NM_003900.4(SQSTM1):c.924G>A (p.Ala308=) 139482113 MedGen:CN169374 5 179833201 179833201 G A 251874 single nucleotide variant NM_003900.4(SQSTM1):c.924G>A (p.Ala308=) 139482113 MedGen:CN169374 5 179260201 179260201 G A 251875 single nucleotide variant NM_003900.4(SQSTM1):c.936G>A (p.Arg312=) 4797 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179260213 179260213 G A 251875 single nucleotide variant NM_003900.4(SQSTM1):c.936G>A (p.Arg312=) 4797 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179833213 179833213 G A 251876 single nucleotide variant NM_003900.4(SQSTM1):c.954C>T (p.Ser318=) 56092424 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179833231 179833231 C T 251876 single nucleotide variant NM_003900.4(SQSTM1):c.954C>T (p.Ser318=) 56092424 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179260231 179260231 C T 251877 single nucleotide variant NM_003900.4(SQSTM1):c.961C>T (p.Arg321Cys) 140226523 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179833238 179833238 C T 251877 single nucleotide variant NM_003900.4(SQSTM1):c.961C>T (p.Arg321Cys) 140226523 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179260238 179260238 C T 251878 single nucleotide variant NM_003900.4(SQSTM1):c.1044G>A (p.Pro348=) 10058037 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179260661 179260661 G A 251878 single nucleotide variant NM_003900.4(SQSTM1):c.1044G>A (p.Pro348=) 10058037 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401;MedGen:CN169374 5 179833661 179833661 G A 260470 single nucleotide variant NM_003900.4(SQSTM1):c.2T>A (p.Met1Lys) 886039780 MedGen:CN238691,OMIM:617145 5 179820938 179820938 T A 260470 single nucleotide variant NM_003900.4(SQSTM1):c.2T>A (p.Met1Lys) 886039780 MedGen:CN238691,OMIM:617145 5 179247938 179247938 T A 260471 deletion NM_001142298.1(SQSTM1):c.59_60delAG (p.Glu20Valfs) 886039781 MedGen:CN238691,OMIM:617145 5 179823867 179823868 AG - 260471 deletion NM_001142298.1(SQSTM1):c.59_60delAG (p.Glu20Valfs) 886039781 MedGen:CN238691,OMIM:617145 5 179250867 179250868 AG - 260472 single nucleotide variant NM_001142298.1(SQSTM1):c.34C>T (p.Arg12Ter) 886039782 MedGen:CN238691,OMIM:617145 5 179823038 179823038 C T 260472 single nucleotide variant NM_001142298.1(SQSTM1):c.34C>T (p.Arg12Ter) 886039782 MedGen:CN238691,OMIM:617145 5 179250038 179250038 C T 297248 single nucleotide variant NM_003900.4(SQSTM1):c.-17C>T 761120269 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179820920 179820920 C T 297248 single nucleotide variant NM_003900.4(SQSTM1):c.-17C>T 761120269 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179247920 179247920 C T 297251 single nucleotide variant NM_003900.4(SQSTM1):c.181G>A (p.Gly61Ser) 749801323 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179821117 179821117 G A 297251 single nucleotide variant NM_003900.4(SQSTM1):c.181G>A (p.Gly61Ser) 749801323 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179248117 179248117 G A 297252 single nucleotide variant NM_003900.4(SQSTM1):c.253A>G (p.Met85Val) 886060502 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179250005 179250005 A G 297252 single nucleotide variant NM_003900.4(SQSTM1):c.253A>G (p.Met85Val) 886060502 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179823005 179823005 A G 297253 single nucleotide variant NM_003900.4(SQSTM1):c.811G>A (p.Val271Ile) 376283809 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179833088 179833088 G A 297253 single nucleotide variant NM_003900.4(SQSTM1):c.811G>A (p.Val271Ile) 376283809 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179260088 179260088 G A 297254 single nucleotide variant NM_003900.4(SQSTM1):c.819A>G (p.Pro273=) 200388590 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179833096 179833096 A G 297254 single nucleotide variant NM_003900.4(SQSTM1):c.819A>G (p.Pro273=) 200388590 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179260096 179260096 A G 297255 single nucleotide variant NM_003900.4(SQSTM1):c.955G>A (p.Glu319Lys) 61748794 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179833232 179833232 G A 297255 single nucleotide variant NM_003900.4(SQSTM1):c.955G>A (p.Glu319Lys) 61748794 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179260232 179260232 G A 297258 single nucleotide variant NM_003900.4(SQSTM1):c.*60C>T 369609665 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836653 179836653 C T 297258 single nucleotide variant NM_003900.4(SQSTM1):c.*60C>T 369609665 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263653 179263653 C T 297268 single nucleotide variant NM_003900.4(SQSTM1):c.*175T>G 186996560 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263768 179263768 T G 297268 single nucleotide variant NM_003900.4(SQSTM1):c.*175T>G 186996560 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836768 179836768 T G 297271 single nucleotide variant NM_003900.4(SQSTM1):c.*837G>A 148611524 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264430 179264430 G A 297271 single nucleotide variant NM_003900.4(SQSTM1):c.*837G>A 148611524 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837430 179837430 G A 297272 single nucleotide variant NM_003900.4(SQSTM1):c.*1138T>C 10277 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264731 179264731 T C 297272 single nucleotide variant NM_003900.4(SQSTM1):c.*1138T>C 10277 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837731 179837731 T C 297273 single nucleotide variant NM_003900.4(SQSTM1):c.*1205T>C 778576827 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264798 179264798 T C 297273 single nucleotide variant NM_003900.4(SQSTM1):c.*1205T>C 778576827 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837798 179837798 T C 297283 deletion NM_003900.4(SQSTM1):c.*1301_*1302delGA 886060509 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264894 179264895 GA - 297283 deletion NM_003900.4(SQSTM1):c.*1301_*1302delGA 886060509 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837894 179837895 GA - 297284 single nucleotide variant NM_003900.4(SQSTM1):c.*1322G>T 1065154 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264915 179264915 G T 297284 single nucleotide variant NM_003900.4(SQSTM1):c.*1322G>T 1065154 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837915 179837915 G T 297289 single nucleotide variant NM_003900.4(SQSTM1):c.*1336C>T 199862884 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264929 179264929 C T 297289 single nucleotide variant NM_003900.4(SQSTM1):c.*1336C>T 199862884 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837929 179837929 C T 299226 single nucleotide variant NM_003900.4(SQSTM1):c.-35G>C 189132632 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179820902 179820902 G C 299226 single nucleotide variant NM_003900.4(SQSTM1):c.-35G>C 189132632 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179247902 179247902 G C 299232 single nucleotide variant NM_003900.4(SQSTM1):c.84C>A (p.Ser28Arg) 759823891 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179821020 179821020 C A 299232 single nucleotide variant NM_003900.4(SQSTM1):c.84C>A (p.Ser28Arg) 759823891 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179248020 179248020 C A 299241 single nucleotide variant NM_003900.4(SQSTM1):c.165C>A (p.Phe55Leu) 886060501 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179821101 179821101 C A 299241 single nucleotide variant NM_003900.4(SQSTM1):c.165C>A (p.Phe55Leu) 886060501 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179248101 179248101 C A 299249 single nucleotide variant NM_003900.4(SQSTM1):c.183C>T (p.Gly61=) 767340839 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179821119 179821119 C T 299249 single nucleotide variant NM_003900.4(SQSTM1):c.183C>T (p.Gly61=) 767340839 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179248119 179248119 C T 299252 single nucleotide variant NM_003900.4(SQSTM1):c.316C>T (p.Arg106Trp) 886060503 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179823872 179823872 C T 299252 single nucleotide variant NM_003900.4(SQSTM1):c.316C>T (p.Arg106Trp) 886060503 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179250872 179250872 C T 299253 single nucleotide variant NM_003900.4(SQSTM1):c.912G>A (p.Thr304=) 370970067 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179833189 179833189 G A 299253 single nucleotide variant NM_003900.4(SQSTM1):c.912G>A (p.Thr304=) 370970067 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179260189 179260189 G A 299254 single nucleotide variant NM_003900.4(SQSTM1):c.959G>A (p.Gly320Glu) 747589104 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179833236 179833236 G A 299254 single nucleotide variant NM_003900.4(SQSTM1):c.959G>A (p.Gly320Glu) 747589104 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179260236 179260236 G A 299262 single nucleotide variant NM_003900.4(SQSTM1):c.*259G>A 886060505 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263852 179263852 G A 299262 single nucleotide variant NM_003900.4(SQSTM1):c.*259G>A 886060505 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836852 179836852 G A 299267 single nucleotide variant NM_003900.4(SQSTM1):c.*260C>T 529602681 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263853 179263853 C T 299267 single nucleotide variant NM_003900.4(SQSTM1):c.*260C>T 529602681 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836853 179836853 C T 299269 single nucleotide variant NM_003900.4(SQSTM1):c.*1111G>C 199887787 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264704 179264704 G C 299269 single nucleotide variant NM_003900.4(SQSTM1):c.*1111G>C 199887787 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837704 179837704 G C 299303 single nucleotide variant NM_003900.4(SQSTM1):c.*1235T>C 886060508 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264828 179264828 T C 299303 single nucleotide variant NM_003900.4(SQSTM1):c.*1235T>C 886060508 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837828 179837828 T C 303455 single nucleotide variant NM_003900.4(SQSTM1):c.612A>G (p.Gly204=) 878982215 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179824262 179824262 A G 303455 single nucleotide variant NM_003900.4(SQSTM1):c.612A>G (p.Gly204=) 878982215 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179251262 179251262 A G 303458 single nucleotide variant NM_003900.4(SQSTM1):c.687G>A (p.Ser229=) 140341924 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179825159 179825159 G A 303458 single nucleotide variant NM_003900.4(SQSTM1):c.687G>A (p.Ser229=) 140341924 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179252159 179252159 G A 303461 single nucleotide variant NM_003900.4(SQSTM1):c.*83G>A 155790 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263676 179263676 G A 303461 single nucleotide variant NM_003900.4(SQSTM1):c.*83G>A 155790 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836676 179836676 G A 303465 duplication NM_003900.4(SQSTM1):c.*187_*188dupTG 10688915 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263780 179263781 TG TGTG 303465 duplication NM_003900.4(SQSTM1):c.*187_*188dupTG 10688915 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836780 179836781 TG TGTG 303468 duplication NM_003900.4(SQSTM1):c.*725_*728dupCTTT 886060507 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264318 179264321 CTTT CTTTCTTT 303468 duplication NM_003900.4(SQSTM1):c.*725_*728dupCTTT 886060507 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837318 179837321 CTTT CTTTCTTT 303472 single nucleotide variant NM_003900.4(SQSTM1):c.*987G>A 199727564 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264580 179264580 G A 303472 single nucleotide variant NM_003900.4(SQSTM1):c.*987G>A 199727564 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837580 179837580 G A 303473 single nucleotide variant NM_003900.4(SQSTM1):c.*1101G>A 61742526 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264694 179264694 G A 303473 single nucleotide variant NM_003900.4(SQSTM1):c.*1101G>A 61742526 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837694 179837694 G A 303667 single nucleotide variant NM_003900.4(SQSTM1):c.-25G>A 74523483 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179820912 179820912 G A 303667 single nucleotide variant NM_003900.4(SQSTM1):c.-25G>A 74523483 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179247912 179247912 G A 303668 single nucleotide variant NM_003900.4(SQSTM1):c.*243C>G 886060504 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263836 179263836 C G 303668 single nucleotide variant NM_003900.4(SQSTM1):c.*243C>G 886060504 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836836 179836836 C G 303669 single nucleotide variant NM_003900.4(SQSTM1):c.*279C>G 11548631 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263872 179263872 C G 303669 single nucleotide variant NM_003900.4(SQSTM1):c.*279C>G 11548631 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836872 179836872 C G 303673 single nucleotide variant NM_003900.4(SQSTM1):c.*288C>T 886060506 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179263881 179263881 C T 303673 single nucleotide variant NM_003900.4(SQSTM1):c.*288C>T 886060506 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179836881 179836881 C T 303676 single nucleotide variant NM_003900.4(SQSTM1):c.*539T>G 1060271 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179264132 179264132 T G 303676 single nucleotide variant NM_003900.4(SQSTM1):c.*539T>G 1060271 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179837132 179837132 T G 303679 single nucleotide variant NM_003900.4(SQSTM1):c.*1480C>T 886060510 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179838073 179838073 C T 303679 single nucleotide variant NM_003900.4(SQSTM1):c.*1480C>T 886060510 MedGen:C0029401,Orphanet:ORPHA280110,SNOMED CT:C0029401 5 179265073 179265073 C T

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 5 179238261 rs72807343 C T rs72807343 7.00E-07 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C intron GWASdb_trait 5 179250130 rs7711505 C T rs7711505 1.05E-04 Acute lung injury HPOID:0002088 DOID:850 C intron GWASdb_trait 5 179252537 rs3734007 A G rs3734007 2.36E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 5 179259842 rs2450484 G C rs2450484 6.18E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000161011.19 SQSTM1 601530