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: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2018 2018
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2015 2015
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.020 1.000 2 2004 2007
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs12490016
rs12490016
3 0.882 0.120 3 157121142 intron variant G/C snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1630623
rs1630623
3 0.882 0.120 9 72725323 intron variant A/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs200889048
rs200889048
3 0.882 0.120 3 74928276 intergenic variant C/- del 0.010 1.000 1 2017 2017
dbSNP: rs2049046
rs2049046
6 0.827 0.200 11 27702228 intron variant T/A snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs2070951
rs2070951
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 0.010 1.000 1 2011 2011
dbSNP: rs373288445
rs373288445
3 0.925 0.080 1 231694534 missense variant C/T snv 5.6E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs375382379
rs375382379
5 0.882 0.160 5 143399792 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4142324
rs4142324
1 1.000 0.040 15 50871860 intron variant C/T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs550659379
rs550659379
5 0.882 0.160 5 143399780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2011 2011
dbSNP: rs6190
rs6190
6 0.827 0.120 5 143400772 missense variant C/G;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs752834812
rs752834812
5 0.882 0.160 5 143399885 missense variant T/C snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs772651364
rs772651364
5 0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs773758385
rs773758385
3 0.925 0.080 1 231694162 missense variant C/T snv 1.0E-04 3.5E-05 0.010 1.000 1 2018 2018