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: rs193922348
rs193922348
2 1.000 0.120 X 71110295 missense variant A/C;G snv 0.700 0
dbSNP: rs1064793347
rs1064793347
3 0.925 0.120 X 71107864 stop gained G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs193921149
rs193921149
1 1.000 0.120 X 71110946 frameshift variant A/- delins 0.010 1.000 1 2009 2009