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: rs114202211
rs114202211
5 0.827 0.120 1 113943285 intron variant T/C snv 8.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs11574938
rs11574938
6 0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs116046827
rs116046827
BSN
5 0.827 0.120 3 49618715 intron variant T/C snv 8.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs11614178
rs11614178
6 0.827 0.120 12 68114342 intron variant G/A;T snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs11616188
rs11616188
5 0.827 0.120 12 6393576 upstream gene variant G/A snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs11624293
rs11624293
5 0.827 0.120 14 88022477 intron variant T/C snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs11632488
rs11632488
1 1.000 0.040 15 79975159 upstream gene variant A/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11649613
rs11649613
5 0.827 0.120 16 11225500 downstream gene variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs11675538
rs11675538
5 0.827 0.120 2 65459327 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs11676348
rs11676348
8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11691685
rs11691685
5 0.827 0.120 2 144724260 intron variant A/G snv 5.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs11749040
rs11749040
5 0.827 0.120 5 40396323 regulatory region variant G/A snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs11749391
rs11749391
5 0.827 0.120 5 150849504 intron variant T/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11750385
rs11750385
5 0.827 0.120 5 10521556 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1182188
rs1182188
8 0.827 0.120 7 2830351 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs12075255
rs12075255
5 0.827 0.120 1 206788283 intron variant A/G snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs12131796
rs12131796
5 0.827 0.120 1 200909599 intron variant G/A snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs12188300
rs12188300
6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12369214
rs12369214
6 0.807 0.120 12 106804833 intron variant G/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1250573
rs1250573
5 0.827 0.120 10 79282718 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs1267499
rs1267499
6 0.807 0.160 6 14715651 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12694846
rs12694846
5 0.827 0.120 2 230283413 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs12718244
rs12718244
6 0.827 0.120 7 50136058 intron variant G/A snv 0.33 0.33 0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2016 2016