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: rs757075712
rs757075712
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.710 1.000 1 2016 2016
dbSNP: rs139194636
rs139194636
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 0.700 0
dbSNP: rs367956522
rs367956522
7 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
dbSNP: rs757600616
rs757600616
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs1012335
rs1012335
2 0.925 0.080 21 33341701 intron variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs113994098
rs113994098
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs139041445
rs139041445
1 1.000 0.040 5 157052557 inframe insertion -/CTG delins 0.010 1.000 1 2019 2019
dbSNP: rs1448427
rs1448427
2 0.925 0.080 2 186661945 intron variant G/A snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs2257167
rs2257167
7 0.807 0.200 21 33343393 missense variant G/C snv 0.18 0.16 0.010 1.000 1 2010 2010
dbSNP: rs267606959
rs267606959
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2013 2013
dbSNP: rs3087374
rs3087374
3 0.882 0.080 15 89316763 missense variant C/A snv 6.1E-02 6.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs374661051
rs374661051
3 0.925 0.040 16 21965440 missense variant C/A;G;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs3820998
rs3820998
3 0.882 0.120 2 161138615 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 2019
dbSNP: rs886037843
rs886037843
3 0.882 0.040 17 64496425 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018