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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs10012
rs10012
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10052999
rs10052999
C6
1 1.000 0.080 5 41165642 intron variant C/T snv 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs10053538
rs10053538
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1010273
rs1010273
3 0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs10116253
rs10116253
4 0.851 0.120 9 117702042 upstream gene variant T/C snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.760 1.000 7 2013 2019
dbSNP: rs1012335
rs1012335
2 0.925 0.080 21 33341701 intron variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1014509103
rs1014509103
2 1.000 0.080 1 161194005 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.020 1.000 2 2015 2016
dbSNP: rs10272859
rs10272859
4 0.925 0.120 7 90689160 intron variant G/C snv 0.39 0.710 1.000 1 2018 2018
dbSNP: rs1040441824
rs1040441824
PTS
4 0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05 0.010 1.000 1 1997 1997
dbSNP: rs1042489
rs1042489
5 0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.867 15 2005 2017
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1044250
rs1044250
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1045411
rs1045411
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.020 1.000 2 2016 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2019
dbSNP: rs1046282
rs1046282
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1047840
rs1047840
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.020 0.500 2 2017 2018
dbSNP: rs10484561
rs10484561
6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs10485505
rs10485505
3 1.000 0.080 20 34437762 intron variant C/G;T snv 0.010 1.000 1 2017 2017