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: rs999885
rs999885
3 0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46 0.010 1.000 1 2012 2012
dbSNP: rs10485138
rs10485138
1 1.000 0.080 6 100690714 intron variant C/T snv 2.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs12649554
rs12649554
1 1.000 0.080 4 100975519 regulatory region variant T/C snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs3917267
rs3917267
3 0.882 0.080 2 102162359 intron variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.730 0.750 4 2011 2019
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2185379
rs2185379
1 1.000 0.080 6 106088378 missense variant G/A snv 3.8E-02 4.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1010273
rs1010273
3 0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs548234
rs548234
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs6937876
rs6937876
2 0.925 0.200 6 106132754 intron variant G/A snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs6568431
rs6568431
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs9514828
rs9514828
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.020 0.500 2 2017 2019
dbSNP: rs12583006
rs12583006
8 0.807 0.320 13 108285104 intron variant T/A snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs11569017
rs11569017
EGF
2 0.925 0.120 4 109980955 missense variant A/T snv 7.3E-02 5.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs739496
rs739496
10 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs3782886
rs3782886
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2011 2011
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.710 1.000 2 2011 2019
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2012 2019
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.020 1.000 2 2012 2019
dbSNP: rs33932899
rs33932899
4 0.851 0.240 16 11254354 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs243327
rs243327
4 0.882 0.280 16 11259447 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 < 0.001 1 2014 2014
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015