Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777528
rs587777528
ORAI1
0.800 GeneticVariation UNIPROT ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 28058752

2017
dbSNP: rs786204796
rs786204796
ORAI1
0.800 GeneticVariation UNIPROT ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 28058752

2017
dbSNP: rs587777528
rs587777528
ORAI1
0.800 GeneticVariation UNIPROT Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 24591628

2014
dbSNP: rs786204796
rs786204796
ORAI1
0.800 GeneticVariation UNIPROT Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 24591628

2014
dbSNP: rs587777528
rs587777528
ORAI1
T 0.800 CausalMutation CLINVAR

dbSNP: rs786204796
rs786204796
ORAI1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1555322610
rs1555322610
ORAI1
G 0.700 CausalMutation CLINVAR

dbSNP: rs786204797
rs786204797
ORAI1
T 0.700 CausalMutation CLINVAR