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: rs1007863
rs1007863
1 1.000 22 43999571 missense variant T/A;C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs1010022
rs1010022
1 1.000 22 43940430 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs11090617
rs11090617
1 1.000 22 43930820 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs12447924
rs12447924
3 1.000 16 56960280 upstream gene variant C/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs12483959
rs12483959
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12597002
rs12597002
3 1.000 16 56968492 intron variant C/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1461729
rs1461729
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs1474745
rs1474745
1 1.000 22 43953356 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1883349
rs1883349
1 1.000 22 43936063 intron variant G/A snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1883350
rs1883350
1 1.000 22 43932163 intron variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1977081
rs1977081
2 1.000 22 43934248 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2072905
rs2072905
1 1.000 22 43937599 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2073079
rs2073079
1 1.000 22 43989714 intron variant A/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2073081
rs2073081
1 1.000 22 43939864 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2076211
rs2076211
3 1.000 22 43933198 intron variant C/A;T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2126259
rs2126259
9 1.000 8 9327636 intron variant T/C snv 0.87 0.700 1.000 1 2013 2013
dbSNP: rs2228530
rs2228530
1 1.000 2 28778825 missense variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2235777
rs2235777
1 1.000 22 43982929 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs2235778
rs2235778
1 1.000 22 43993634 intron variant T/C snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs2281292
rs2281292
1 1.000 22 43999509 intron variant A/C snv 0.44 0.47 0.700 1.000 1 2013 2013
dbSNP: rs2281298
rs2281298
1 1.000 22 43995354 intron variant G/A snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2294916
rs2294916
1 1.000 22 43945042 intron variant T/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2294922
rs2294922
1 1.000 22 43983685 intron variant G/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs2401514
rs2401514
1 1.000 22 43998139 intron variant T/A snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs3788604
rs3788604
1 1.000 22 43992537 intron variant A/G snv 0.48 0.700 1.000 1 2013 2013