Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555727493
rs1555727493
KMT2B
TGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR

dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
T 0.700 GeneticVariation CLINVAR

dbSNP: rs606231435
rs606231435
ATP1A3
T 0.700 CausalMutation CLINVAR

dbSNP: rs61749721
rs61749721
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
T 0.700 GeneticVariation CLINVAR

dbSNP: rs778543124
rs778543124
XPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
T 0.700 GeneticVariation CLINVAR