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rs797045962

From SNPedia

ClinVar
Risk rs797045962(C;C)
Alt rs797045962(C;C)
Reference rs797045962(;)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73749269dupC
CLNSRC
CLNACC RCV000192887.1,