Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1177309800
rs1177309800
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT
dbSNP: rs11887534
rs11887534
Entrez Id: 64240;64241
Gene Symbol: ABCG5;ABCG8
ABCG5;ABCG8
CUI: C1969115
Disease:
GALLBLADDER DISEASE 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1233989408
rs1233989408
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT
dbSNP: rs1325979386
rs1325979386
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT
dbSNP: rs758551848
rs758551848
Entrez Id: 64240;64241
Gene Symbol: ABCG5;ABCG8
ABCG5;ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT
dbSNP: rs137852988
rs137852988
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs137852990
rs137852990
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs137852992
rs137852992
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs137852993
rs137852993
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs201690654
rs201690654
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs34754243
rs34754243
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs766212636
rs766212636
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs769576789
rs769576789
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
dbSNP: rs137852988
rs137852988
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs137852990
rs137852990
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs137852992
rs137852992
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs137852993
rs137852993
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs201690654
rs201690654
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs34754243
rs34754243
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs766212636
rs766212636
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs769576789
rs769576789
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs137852988
rs137852988
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 15054092 2004
dbSNP: rs137852990
rs137852990
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 15054092 2004
dbSNP: rs137852992
rs137852992
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 15054092 2004
dbSNP: rs137852993
rs137852993
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 15054092 2004