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rs797045558

From SNPedia

ClinVar
Risk rs797045558(;)
Alt rs797045558(;)
Reference rs797045558(TG;TG)
Significance Pathogenic
Disease Wolcott-Rallison dysplasia
Variation info
Gene EIF2AK3
CLNDBN Wolcott-Rallison dysplasia
Reversed 1
HGVS NC_000002.11:g.88885444_88885445delCA
CLNSRC
CLNACC RCV000193530.1,