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: rs121434621
rs121434621
3 0.882 0.120 X 154154602 missense variant T/C snv 0.820 1.000 2 2012 2013
dbSNP: rs782797093
rs782797093
1 1.000 0.120 X 154156469 missense variant C/T snv 5.5E-06 0.700 1.000 2 1993 1995
dbSNP: rs104894912
rs104894912
1 1.000 0.120 X 154154734 stop gained C/T snv 0.700 0
dbSNP: rs781915220
rs781915220
2 0.925 0.160 X 154150787 missense variant A/G snv 5.5E-06 0.010 1.000 1 2019 2019