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: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2007 2007
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2007 2007
dbSNP: rs1800759
rs1800759
4 0.925 0.120 4 99144358 intron variant T/G snv 0.49 0.020 1.000 2 2006 2011
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2006 2006
dbSNP: rs1709832
rs1709832
3 1.000 0.080 21 37665865 intron variant T/G snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs1787331
rs1787331
3 1.000 0.080 21 37631223 intron variant T/G snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs2734835
rs2734835
1 1.000 0.080 11 113420621 intron variant T/G snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs4452239
rs4452239
3 1.000 0.080 21 37680353 intron variant T/G snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs6486120
rs6486120
1 1.000 0.080 11 13302595 intron variant T/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs73220491
rs73220491
3 1.000 0.080 21 37616021 3 prime UTR variant T/G snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs774062108
rs774062108
3 0.925 0.240 4 102607651 splice region variant T/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs857975
rs857975
3 1.000 0.080 21 37629311 intron variant T/G snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.900 1.000 19 2004 2019
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 2019 2019
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2007 2007
dbSNP: rs8040009
rs8040009
3 1.000 0.080 15 92501109 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.050 1.000 5 2012 2016
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.040 0.750 4 2010 2017
dbSNP: rs13273672
rs13273672
2 0.925 0.080 8 11754872 intron variant T/C snv 0.34 0.030 0.667 3 2014 2016
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.020 1.000 2 2005 2006
dbSNP: rs1997794
rs1997794
4 0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50 0.020 1.000 2 2013 2018
dbSNP: rs2281285
rs2281285
2 0.925 0.080 20 1991814 intron variant T/C snv 0.16 0.020 1.000 2 2013 2015
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.020 0.500 2 2015 2020
dbSNP: rs3762894
rs3762894
2 1.000 0.080 4 99144933 intron variant T/C snv 0.19 0.020 1.000 2 2011 2011
dbSNP: rs10051667
rs10051667
2 0.925 0.080 5 161471322 intron variant T/C snv 0.12 0.010 1.000 1 2015 2015