Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894854
rs104894854
GPC3
0.800 GeneticVariation UNIPROT Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. 10814714

2000
dbSNP: rs104894854
rs104894854
GPC3
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894855
rs104894855
GPC3
A 0.700 CausalMutation CLINVAR

dbSNP: rs122453121
rs122453121
GPC3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569426054
rs1569426054
GPC3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267606850
rs267606850
GPC3
T 0.700 CausalMutation CLINVAR

dbSNP: rs753210097
rs753210097
GPC3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025181
rs869025181
GPC3
G 0.700 CausalMutation CLINVAR

dbSNP: rs869025182
rs869025182
GPC3
A 0.700 CausalMutation CLINVAR

dbSNP: rs869025183
rs869025183
GPC3
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039908
rs886039908
GPC3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs3780181
rs3780181
VLDLR ; VLDLR-AS1
0.010 GeneticVariation BEFREE We used a functional genetic approach to show that the intronic region spanning rs3780181 exhibited 1.6-7.6-fold enhancer activity in human HepG2 hepatocyte, THP-1 monocyte and Simpson-Golabi-Behmel Syndrome (SGBS) preadipocyte cells and that the rs3780181-A risk allele showed significantly less enhancer activity compared with the G allele, consistent with the direction of an expression quantitative trait locus in liver. 30445632

2019
dbSNP: rs1218564193
rs1218564193
AR
0.010 GeneticVariation BEFREE We identified three siblings with typical SGBS (two male and one female cases) and their mother with very mild symptoms in a family carrying c.256C>T (p.Arg86X) mutation in GPC3. 20950395

2011