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: rs1194919682
rs1194919682
2 0.925 0.040 2 136115158 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs761937143
rs761937143
1 1.000 0.040 18 51047229 synonymous variant A/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1003723
rs1003723
2 0.925 0.080 19 11113505 non coding transcript exon variant C/A;T snv 4.0E-06; 0.40 0.010 1.000 1 2008 2008
dbSNP: rs11635252
rs11635252
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2018 2018
dbSNP: rs2076310
rs2076310
2 0.925 0.080 6 33198257 intron variant A/G snv 0.27 0.28 0.010 1.000 1 2008 2008
dbSNP: rs2230054
rs2230054
2 0.925 0.080 2 218135587 synonymous variant C/T snv 0.48 0.54 0.010 1.000 1 2008 2008
dbSNP: rs3769839
rs3769839
2 0.925 0.080 2 230211910 intron variant T/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs7731017
rs7731017
2 0.925 0.080 5 150732056 intron variant T/C snv 8.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs8004738
rs8004738
2 0.925 0.080 14 94390577 5 prime UTR variant G/A snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs1126580
rs1126580
3 0.882 0.120 2 218136243 3 prime UTR variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs9679162
rs9679162
4 0.882 0.120 2 31024648 intron variant G/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3219472
rs3219472
3 0.882 0.160 1 45338378 5 prime UTR variant C/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs763569821
rs763569821
4 0.851 0.160 1 155188197 missense variant T/C snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs1126579
rs1126579
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2008 2008
dbSNP: rs2289278
rs2289278
5 0.827 0.200 5 111073450 5 prime UTR variant C/G snv 8.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs3024270
rs3024270
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs3219476
rs3219476
3 0.882 0.200 1 45336998 intron variant A/C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2019 2019
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.010 1.000 1 2013 2013
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs889312
rs889312
14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2019 2019