Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893961
rs104893961
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		C 0.810 CausalMutation CLINVAR

dbSNP: rs1554200992
rs1554200992
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		T 0.810 CausalMutation CLINVAR

dbSNP: rs1554201043
rs1554201043
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		T 0.810 CausalMutation CLINVAR

dbSNP: rs267606845
rs267606845
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		A 0.810 GeneticVariation CLINVAR

dbSNP: rs267606845
rs267606845
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		A 0.810 CausalMutation CLINVAR

dbSNP: rs104893962
rs104893962
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs104893963
rs104893963
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104893966
rs104893966
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121912969
rs121912969
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs28931601
rs28931601
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs397518464
rs397518464
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs962041031
rs962041031
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs387906616
rs387906616
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		T 0.700 CausalMutation CLINVAR