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: rs1557055311
rs1557055311
5 0.882 0.200 X 153743220 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs104895223
rs104895223
4 0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1450500
rs1450500
2 1.000 0.200 4 92558124 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs587777840
rs587777840
4 0.882 0.080 2 32250855 missense variant T/A snv 0.010 1.000 1 2014 2014