Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894854
rs104894854
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		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
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894855
rs104894855
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs122453121
rs122453121
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1569426054
rs1569426054
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs267606850
rs267606850
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs753210097
rs753210097
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025181
rs869025181
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025182
rs869025182
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869025183
rs869025183
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886039908
rs886039908
GPC3
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		G 0.700 GeneticVariation CLINVAR