Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514697
rs397514697
STAMBP
1 1.000 0.160 2 73845186 missense variant T/A snv 8.0E-06 2.1E-05 0.800 1.000 1 2013 2013