Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs35135520
rs35135520
TIMM50
A 0.700 CausalMutation CLINVAR

dbSNP: rs758022116
rs758022116
RALGAPB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs776019250
rs776019250
TIMM50
C 0.700 CausalMutation CLINVAR