Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398123009
rs398123009
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
Pathological Conditions, Signs and Symptoms 0.810 1.000 3 2012 2019