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: rs763809932
rs763809932
1 1.000 0.080 2 178614110 missense variant G/A;T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs199473565
rs199473565
3 0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs120074192
rs120074192
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.050 0.600 5 2011 2014
dbSNP: rs9277535
rs9277535
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.040 1.000 4 2011 2018
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs7453920
rs7453920
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs757537938
rs757537938
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs9277542
rs9277542
4 0.851 0.280 6 33087470 3 prime UTR variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs9332739
rs9332739
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.060 1.000 6 2013 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.050 0.800 5 2013 2018
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.040 1.000 4 2013 2019
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.040 1.000 4 2013 2019
dbSNP: rs1419881
rs1419881
4 0.851 0.280 6 31162816 3 prime UTR variant G/A snv 0.50 0.020 1.000 2 2013 2017
dbSNP: rs10853728
rs10853728
5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2280883
rs2280883
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs2284553
rs2284553
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs9277378
rs9277378
5 0.827 0.320 6 33082502 intron variant A/G snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs9808753
rs9808753
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.020 1.000 2 2015 2017