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rs797045963

From SNPedia

ClinVar
Risk rs797045963(;)
Alt rs797045963(;)
Reference rs797045963(CTGTAATC;CTGTAATC)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73751242_73751249delGTAATCCT
CLNSRC
CLNACC RCV000193930.1,