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: rs587777233
rs587777233
1 1.000 6 12292467 missense variant T/A snv 0.800 1.000 1 2013 2013
dbSNP: rs587777234
rs587777234
1 1.000 6 12293956 stop gained T/G snv 0.700 0