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: rs1135401773
rs1135401773
2 1.000 0.200 X 43731325 missense variant G/A snv 0.700 0
dbSNP: rs587777457
rs587777457
3 0.925 0.200 X 43731695 missense variant G/T snv 0.700 0
dbSNP: rs72554632
rs72554632
1 1.000 0.200 X 43731784 stop gained C/T snv 0.700 0
dbSNP: rs796065311
rs796065311
1 1.000 0.200 X 43731344 frameshift variant -/T ins 0.700 0
dbSNP: rs796065312
rs796065312
1 1.000 0.200 X 43683572 missense variant C/T snv 0.700 0