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: rs12493901
rs12493901
3 3 172204265 intron variant G/A snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs12641981
rs12641981
2 4 45177866 intergenic variant C/T snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs12731372
rs12731372
3 1 118310352 regulatory region variant C/T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs12885454
rs12885454
4 14 29267632 non coding transcript exon variant C/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs1294409
rs1294409
2 6 6738122 intron variant C/T snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs12969709
rs12969709
4 1.000 0.080 18 60192330 upstream gene variant C/A snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs12991495
rs12991495
3 2 25263901 intron variant T/C snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs1308362
rs1308362
2 3 138385085 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13083798
rs13083798
3 3 52615732 intron variant A/G snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs13130484
rs13130484
7 1.000 0.080 4 45173674 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13188458
rs13188458
4 0.882 0.160 5 8127718 intergenic variant T/G snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs13191362
rs13191362
3 6 162612318 intron variant A/G snv 8.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs13192994
rs13192994
1 6 75529546 intergenic variant A/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs13243553
rs13243553
1 7 133822202 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs1330
rs1330
4 1.000 0.080 11 17294482 intron variant C/T snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs13404250
rs13404250
1 2 187251469 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13424740
rs13424740
1 2 187218396 intron variant T/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs1344672
rs1344672
1 3 141406863 intron variant C/G snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs1358980
rs1358980
6 6 43796814 intergenic variant C/T snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs1381660
rs1381660
2 8 75961464 intergenic variant A/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs1406948
rs1406948
3 20 35317816 intron variant G/A snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs1423056
rs1423056
1 19 33289538 upstream gene variant G/A snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs1443512
rs1443512
4 12 53948900 downstream gene variant A/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1465370
rs1465370
1 7 130373797 TF binding site variant G/T snv 0.38 0.700 1.000 1 2017 2017