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: rs61871700
rs61871700
3 10 100068504 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs10007186
rs10007186
2 4 78667891 intron variant C/T snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs10162508
rs10162508
1 14 35339056 intergenic variant G/A snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs10772448
rs10772448
1 12 7513784 intergenic variant T/C snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs10845402
rs10845402
1 12 7545464 intergenic variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs10997975
rs10997975
1 10 68174164 missense variant G/A;C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs11237485
rs11237485
1 11 78414965 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11431
rs11431
1 14 54788955 3 prime UTR variant C/A;G;T snv 1.2E-05; 0.53 0.700 1.000 1 2018 2018
dbSNP: rs1153280
rs1153280
2 1.000 0.120 21 29305751 intron variant G/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs11559024
rs11559024
CKM
2 19 45317925 missense variant T/C snv 1.1E-02 1.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs11624106
rs11624106
1 14 54713435 intron variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11670986
rs11670986
1 19 54270639 downstream gene variant A/G snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs116924819
rs116924819
1 10 124922340 intron variant T/A snv 6.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs117692263
rs117692263
1 12 7472418 intron variant T/C snv 7.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs12557126
rs12557126
1 X 143602181 regulatory region variant C/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1279143
rs1279143
1 14 32705894 intron variant A/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs13013209
rs13013209
NEB
1 2 151643935 missense variant C/G snv 0.42 0.35 0.700 1.000 1 2018 2018
dbSNP: rs13032148
rs13032148
1 2 127107524 upstream gene variant G/A snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs137933779
rs137933779
1 1 156529759 intron variant A/G snv 7.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs147140551
rs147140551
1 5 39659340 intergenic variant G/A snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs147178973
rs147178973
1 17 65887477 intron variant T/C snv 2.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs17112705
rs17112705
2 10 100177437 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1801690
rs1801690
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs210966
rs210966
1 6 117303435 intron variant C/G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs2237078
rs2237078
1 5 140337403 intron variant G/C;T snv 0.700 1.000 1 2018 2018