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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.773 22 2006 2020
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016
dbSNP: rs12103
rs12103
3 0.925 0.040 1 1312114 synonymous variant T/A;C;G snv 0.56 0.800 1.000 3 2012 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.667 3 2014 2017
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 1.000 3 2014 2016
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.800 1.000 3 2012 2017
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.810 1.000 3 2012 2017
dbSNP: rs4845604
rs4845604
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.800 1.000 3 2012 2017
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 3 2006 2010
dbSNP: rs7554511
rs7554511
3 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.810 1.000 3 2012 2017
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.020 1.000 2 2007 2012
dbSNP: rs12568930
rs12568930
4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.800 1.000 2 2012 2017
dbSNP: rs1495965
rs1495965
8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.020 1.000 2 2007 2009
dbSNP: rs2488397
rs2488397
2 1.000 0.040 1 197732149 intron variant G/C snv 0.23 0.700 1.000 2 2015 2017
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 0.500 2 2014 2019
dbSNP: rs2816958
rs2816958
6 0.827 0.120 1 200132792 intron variant A/G snv 0.84 0.700 1.000 2 2015 2017
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 0.500 2 2014 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2006
dbSNP: rs4656958
rs4656958
3 0.925 0.040 1 160887174 upstream gene variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs6426833
rs6426833
6 0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52 0.700 1.000 2 2015 2017
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2002 2002
dbSNP: rs7517810
rs7517810
2 1.000 0.040 1 172884320 intron variant C/T snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 0.500 2 2014 2019
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018