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: rs267607087
rs267607087
5 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs778768583
rs778768583
10 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
dbSNP: rs886042108
rs886042108
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs1171462240
rs1171462240
6 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs781565158
rs781565158
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0