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: rs137853314
rs137853314
1 1.000 0.080 X 154367857 missense variant C/A snv 0.810 1.000 3 2003 2016
dbSNP: rs137853317
rs137853317
5 0.827 0.120 X 154367878 missense variant G/A snv 0.800 1.000 3 2003 2016
dbSNP: rs28935469
rs28935469
4 0.882 0.280 X 154367844 missense variant G/A snv 0.800 1.000 3 2003 2016
dbSNP: rs727503930
rs727503930
1 1.000 0.080 X 154350192 missense variant C/T snv 7.2E-05 0.700 0