Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C3887485
Disease:
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019