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rs797046036

From SNPedia

ClinVar
Risk rs797046036(GT;GT)
Alt rs797046036(GT;GT)
Reference rs797046036(;)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52946779_52946780insAC
CLNSRC
CLNACC RCV000194246.1,