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: rs10248619
rs10248619
2 7 50683393 intron variant T/C snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs10278336
rs10278336
2 7 44205764 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10500292
rs10500292
2 19 45824675 intron variant C/T snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs10747083
rs10747083
2 12 132465032 downstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10758593
rs10758593
8 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs10814916
rs10814916
7 0.851 0.200 9 4293150 intron variant A/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs10849893
rs10849893
1 12 121500382 intron variant C/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs11039119
rs11039119
2 11 47180373 intron variant G/A snv 0.38 0.33 0.700 1.000 1 2012 2012
dbSNP: rs11039130
rs11039130
2 11 47207765 intergenic variant C/T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs11041816
rs11041816
2 11 8222251 downstream gene variant A/G snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs11195502
rs11195502
2 10 111279909 intergenic variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1124649
rs1124649
2 2 27037601 missense variant G/A snv 0.32 0.35 0.700 1.000 1 2012 2012
dbSNP: rs11257655
rs11257655
4 1.000 0.080 10 12265895 TF binding site variant C/T snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs11607883
rs11607883
2 11 45818158 intron variant G/A snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs11672660
rs11672660
5 19 45676926 intron variant C/T snv 0.18 0.17 0.700 1.000 1 2012 2012
dbSNP: rs11715915
rs11715915
AMT
2 3 49417897 synonymous variant C/A;T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs11782386
rs11782386
2 8 9344277 intron variant C/T snv 9.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs118137427
rs118137427
2 10 111217250 intergenic variant A/G snv 3.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs11891554
rs11891554
2 2 27390750 intron variant G/A;T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs12055786
rs12055786
3 6 153109990 intron variant C/T snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs12243326
rs12243326
5 0.925 0.160 10 113029056 intron variant T/C snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12280680
rs12280680
1 11 46279171 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs12440695
rs12440695
3 15 62142957 regulatory region variant T/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs1280
rs1280
2 3 170995501 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012