Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052954321
rs1052954321
ALPK1
T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659

2019
dbSNP: rs1057518422
rs1057518422
TAB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs148292941
rs148292941
PPOX ; B4GALT3
G 0.700 CausalMutation CLINVAR

dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555728965
rs1555728965
NOTCH3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1559931177
rs1559931177
QRICH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs201892814
rs201892814
CAPN3
G 0.700 CausalMutation CLINVAR

dbSNP: rs267607261
rs267607261
MPV17
T 0.700 CausalMutation CLINVAR

dbSNP: rs281875196
rs281875196
SMARCA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs368900406
rs368900406
MPV17
C 0.700 GeneticVariation CLINVAR

dbSNP: rs61755320
rs61755320
SPG7
T 0.700 CausalMutation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs794727411
rs794727411
CACNA1A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
C 0.700 CausalMutation CLINVAR

dbSNP: rs80356702
rs80356702
CLCN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80359473
rs80359473
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs864321670
rs864321670
ALDH18A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs907041830
rs907041830
EIF2B5
G 0.700 GeneticVariation CLINVAR