Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501002
rs1060501002
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		A 0.810 GeneticVariation CLINVAR

dbSNP: rs1060501002
rs1060501002
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		0.810 GeneticVariation UNIPROT

dbSNP: rs104894814
rs104894814
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.810 CausalMutation CLINVAR

dbSNP: rs863224471
rs863224471
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs786204123
rs786204123
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs768834663
rs768834663
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs587777879
rs587777879
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs587777878
rs587777878
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs587777877
rs587777877
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs587777876
rs587777876
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs116840821
rs116840821
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs116840819
rs116840819
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs116840818
rs116840818
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs116840817
rs116840817
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs116840815
rs116840815
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894826
rs104894826
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs104894824
rs104894824
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894823
rs104894823
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894822
rs104894822
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894821
rs104894821
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894820
rs104894820
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894819
rs104894819
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894818
rs104894818
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894817
rs104894817
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894813
rs104894813
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		C 0.800 CausalMutation CLINVAR