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 0.900 0.996 260 2005 2020
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.900 0.925 53 2006 2019
dbSNP: rs1491942
rs1491942
1 1.000 0.040 12 40227006 intron variant C/G snv 0.23 0.800 1.000 4 2011 2014
dbSNP: rs28903073
rs28903073
1 1.000 0.040 12 40259708 intron variant G/A snv 2.4E-03 0.800 1.000 2 2011 2016
dbSNP: rs76904798
rs76904798
2 0.925 0.080 12 40220632 intron variant C/T snv 0.13 0.710 1.000 3 2014 2017
dbSNP: rs11564273
rs11564273
1 1.000 0.040 12 40204350 intron variant T/G snv 6.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.100 1.000 46 2005 2019
dbSNP: rs33949390
rs33949390
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.100 0.931 29 2008 2019
dbSNP: rs7133914
rs7133914
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.080 1.000 8 2014 2019
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.070 1.000 7 2005 2017
dbSNP: rs34410987
rs34410987
3 0.882 0.040 12 40283897 missense variant C/T snv 7.4E-04 2.2E-04 0.060 0.833 6 2006 2012
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.060 1.000 6 2012 2019
dbSNP: rs11564148
rs11564148
4 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 0.050 0.800 5 2011 2017
dbSNP: rs17466213
rs17466213
2 0.925 0.040 12 40308618 missense variant A/G snv 8.6E-04 5.8E-04 0.050 1.000 5 2007 2019
dbSNP: rs34594498
rs34594498
2 0.925 0.040 12 40252984 missense variant C/T snv 4.9E-04 2.4E-04 0.040 0.500 4 2012 2015
dbSNP: rs35870237
rs35870237
9 0.763 0.120 12 40340404 missense variant T/C snv 0.040 1.000 4 2006 2014
dbSNP: rs74163686
rs74163686
2 0.925 0.040 12 40309225 missense variant A/C snv 0.040 1.000 4 2010 2019
dbSNP: rs35173587
rs35173587
2 0.925 0.040 12 40284011 missense variant G/A;T snv 4.0E-06; 1.0E-03 0.030 1.000 3 2006 2010
dbSNP: rs35507033
rs35507033
3 0.882 0.080 12 40313976 missense variant G/A;C snv 4.0E-03; 4.0E-06 0.030 1.000 3 2007 2015
dbSNP: rs35801418
rs35801418
7 0.827 0.120 12 40321114 missense variant A/G snv 0.030 1.000 3 2010 2018
dbSNP: rs11176013
rs11176013
1 1.000 0.040 12 40320071 synonymous variant A/G snv 0.58 0.57 0.020 1.000 2 2012 2016
dbSNP: rs34015634
rs34015634
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.020 1.000 2 2016 2017
dbSNP: rs35658131
rs35658131
2 0.925 0.040 12 40351723 missense variant A/G snv 3.5E-04 5.4E-04 0.020 1.000 2 2011 2012
dbSNP: rs10878226
rs10878226
1 1.000 0.040 12 40223890 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs10878307
rs10878307
1 1.000 0.040 12 40278187 missense variant A/G snv 5.8E-02 4.7E-02 0.010 1.000 1 2019 2019