Source: ALL
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: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.040 1.000 4 2013 2018
dbSNP: rs10877969
rs10877969
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.030 1.000 3 2011 2019
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.030 1.000 3 2010 2020
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.030 1.000 3 2009 2015
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2014 2019
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.030 1.000 3 2014 2019
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2014 2016
dbSNP: rs563649
rs563649
2 1.000 0.040 6 154086832 5 prime UTR variant C/T snv 9.8E-02 0.020 1.000 2 2009 2017
dbSNP: rs10166942
rs10166942
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs10483639
rs10483639
3 1.000 0.040 14 54839739 downstream gene variant G/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs104894379
rs104894379
2 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs11709492
rs11709492
1 3 38904493 intron variant C/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs11720013
rs11720013
1 3 38924745 intron variant G/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs11720988
rs11720988
1 3 38865054 intron variant G/A snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs11898284
rs11898284
1 2 166325017 intron variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs11988795
rs11988795
1 8 72037366 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913365
rs121913365
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.010 1.000 1 2004 2004
dbSNP: rs12633508
rs12633508
1 3 88765985 intergenic variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs12654778
rs12654778
1 5 148826178 5 prime UTR variant G/A snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs1275569383
rs1275569383
1 16 28979446 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1288779666
rs1288779666
2 1.000 0.120 22 42128944 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs12948783
rs12948783
1 17 76503318 upstream gene variant G/A;C;T snv 0.010 1.000 1 2011 2011