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: rs1060499626
rs1060499626
6 0.882 0.160 10 180034 stop gained C/T snv 0.700 0
dbSNP: rs886040971
rs886040971
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs886041936
rs886041936
14 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0