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: rs180177135
rs180177135
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs137852986
rs137852986
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs10941679
rs10941679
11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1043994
rs1043994
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2014 2014
dbSNP: rs11249433
rs11249433
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3124591
rs3124591
6 0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs367398
rs367398
5 0.827 0.160 6 32223953 5 prime UTR variant G/A snv 0.34 0.40 0.010 1.000 1 2014 2014
dbSNP: rs3815188
rs3815188
6 0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs80358829
rs80358829
6 0.827 0.120 13 32340327 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs80359180
rs80359180
6 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 0
dbSNP: rs520692
rs520692
3 0.882 0.120 6 32220863 missense variant T/C snv 0.31 0.29 0.010 1.000 1 2014 2014
dbSNP: rs75915166
rs75915166
3 0.882 0.080 11 69564393 TF binding site variant C/A snv 3.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs532480170
rs532480170
5 0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 0.700 0