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: rs1135401746
rs1135401746
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs121909646
rs121909646
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 0
dbSNP: rs121913232
rs121913232
2 0.925 0.120 13 28018500 missense variant G/C snv 0.700 0
dbSNP: rs121913487
rs121913487
2 0.925 0.120 13 28018503 missense variant A/C;T snv 0.700 0
dbSNP: rs121913488
rs121913488
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1478147351
rs1478147351
1 1.000 0.120 3 47101485 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs186148199
rs186148199
1 1.000 0.120 3 47123837 missense variant C/T snv 8.9E-05 3.5E-05 0.700 0
dbSNP: rs188887061
rs188887061
1 1.000 0.120 3 47122353 missense variant C/T snv 4.2E-04 7.0E-05 0.700 0
dbSNP: rs398123063
rs398123063
2 0.925 0.120 9 37002705 missense variant C/T snv 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 2001 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 1.000 7 2004 2015
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.810 1.000 5 2009 2019
dbSNP: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.810 1.000 5 2009 2019
dbSNP: rs4132601
rs4132601
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.820 1.000 4 2009 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2003 2012
dbSNP: rs10994982
rs10994982
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.710 1.000 3 2009 2019
dbSNP: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.800 1.000 3 2009 2018
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2007 2012
dbSNP: rs2167364
rs2167364
1 1.000 0.120 7 50498129 intron variant T/C snv 0.30 0.800 1.000 2 2012 2013
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.800 1.000 2 2013 2015
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs540476365
rs540476365
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs7089424
rs7089424
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.800 1.000 2 2009 2018
dbSNP: rs780963440
rs780963440
1 1.000 0.120 3 47123960 missense variant G/A;C snv 5.0E-05; 1.3E-05 0.700 1.000 2 2014 2014
dbSNP: rs7896246
rs7896246
2 0.925 0.120 10 61964631 intron variant A/G snv 0.74 0.710 1.000 2 2013 2017