Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514677
rs397514677
STIM1
0.710 GeneticVariation BEFREE Genetic testing revealed that both mother and son carried a missense mutation of c.326A>G in exon 3 of the STIM1 gene, which is novel for Stormorken syndrome. 30761937

2019
dbSNP: rs397514677
rs397514677
STIM1
G 0.710 CausalMutation CLINVAR