Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1327062642
rs1327062642
TULP1
TG 0.700 CausalMutation CLINVAR Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 29178942

2017
dbSNP: rs751163782
rs751163782
RAB28
C 0.700 CausalMutation CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532

2015
dbSNP: rs875989778
rs875989778
RAB28
G 0.700 CausalMutation CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532

2015
dbSNP: rs751163782
rs751163782
RAB28
C 0.700 CausalMutation CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546

2013
dbSNP: rs875989778
rs875989778
RAB28
G 0.700 CausalMutation CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546

2013
dbSNP: rs1057518922
rs1057518922
RPE65
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs35135520
rs35135520
TIMM50
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515508
rs397515508
ND1 ; ND2
A 0.700 CausalMutation CLINVAR

dbSNP: rs552184470
rs552184470
GUCY2D
C 0.700 GeneticVariation CLINVAR

dbSNP: rs775796581
rs775796581
CNGB3
T 0.700 CausalMutation CLINVAR

dbSNP: rs776019250
rs776019250
TIMM50
C 0.700 CausalMutation CLINVAR