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: rs397507520
rs397507520
34 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs397507531
rs397507531
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0