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: rs752298579
rs752298579
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs559063155
rs559063155
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2016 2016