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: 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: 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: 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: 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: rs10485505
rs10485505
3 1.000 0.080 20 34437762 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1049112
rs1049112
1 1.000 0.080 12 10930757 missense variant A/G;T snv 0.11; 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs10491121
rs10491121
5 0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1049334
rs1049334
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1049606
rs1049606
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2010 2010
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10514231
rs10514231
6 0.807 0.160 5 82011593 intron variant C/T snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1051792
rs1051792
5 0.851 0.240 6 31411200 missense variant G/A snv 0.34 0.35 0.010 1.000 1 2018 2018