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rs797045965

From SNPedia

ClinVar
Risk rs797045965(;)
Alt rs797045965(;)
Reference rs797045965(C;C)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73641728delC
CLNSRC
CLNACC RCV000192994.1,