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: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.030 1.000 3 2012 2019
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2015 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2013 2013
dbSNP: rs11479
rs11479
2 0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs11896604
rs11896604
8 0.776 0.200 2 54252062 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1447295
rs1447295
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs17224367
rs17224367
3 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs17868323
rs17868323
2 0.925 0.160 2 233682324 missense variant T/A;G snv 0.59 0.010 1.000 1 2002 2002
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs2839698
rs2839698
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs386656364
rs386656364
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs587778964
rs587778964
4 0.882 0.160 3 37048604 missense variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750006
rs63750006
3 0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750070
rs63750070
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs63750114
rs63750114
5 0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 0.010 1.000 1 2007 2007
dbSNP: rs63750228
rs63750228
1 1.000 0.080 2 47429926 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63751067
rs63751067
1 1.000 0.080 2 47410244 frameshift variant CTAGGACTGTGT/A delins 0.010 1.000 1 2006 2006
dbSNP: rs6505162
rs6505162
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs771314938
rs771314938
8 0.807 0.160 2 233682328 frameshift variant CG/- del 0.010 1.000 1 2002 2002
dbSNP: rs876661188
rs876661188
1 1.000 0.080 3 37050573 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs879625015
rs879625015
8 0.807 0.160 2 233682328 frameshift variant CG/A delins 0.010 1.000 1 2002 2002
dbSNP: rs63750447
rs63750447
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.020 0.500 2 2007 2019
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015