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: rs104894816
rs104894816
6 0.827 0.120 X 48792377 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs587776456
rs587776456
2 1.000 0.120 X 48794162 stop lost T/C snv 0.700 0
dbSNP: rs104894815
rs104894815
9 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012