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: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs267607144
rs267607144
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
dbSNP: rs61751362
rs61751362
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.020 1.000 2 2006 2010
dbSNP: rs10510181
rs10510181
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs1057519320
rs1057519320
7 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1114167445
rs1114167445
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs11190870
rs11190870
6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs11598177
rs11598177
1 1.000 0.040 10 101220399 regulatory region variant T/C snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918274
rs121918274
3 0.882 0.200 11 124870650 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12432469
rs12432469
1 1.000 0.040 14 26807946 intron variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs12432472
rs12432472
1 1.000 0.040 14 26807959 intron variant A/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1322330
rs1322330
1 1.000 0.040 10 101231902 intron variant A/G snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs1322331
rs1322331
2 0.925 0.200 10 101226832 3 prime UTR variant A/C snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1322332
rs1322332
1 1.000 0.040 10 101222891 downstream gene variant T/C snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1400180
rs1400180
1 1.000 0.040 3 129285 intron variant T/G snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs1400182
rs1400182
1 1.000 0.040 3 128928 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1407409
rs1407409
1 1.000 0.040 10 101225650 upstream gene variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs1535462
rs1535462
1 1.000 0.040 10 101214115 TF binding site variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1557055405
rs1557055405
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs1561892336
rs1561892336
13 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1568097
rs1568097
1 1.000 0.040 3 138468 intron variant T/C snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1588962
rs1588962
1 1.000 0.040 3 142352 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs17326792
rs17326792
1 1.000 0.040 3 131073 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2011 2011