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: rs17007695
rs17007695
4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs17069665
rs17069665
4 0.882 0.120 6 108620265 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs1966862
rs1966862
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs200378616
rs200378616
3 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2413739
rs2413739
6 0.827 0.120 22 43001030 intron variant C/T snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs2742038
rs2742038
3 0.882 0.120 10 101137330 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs35134728
rs35134728
3 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 0.010 1.000 1 2017 2017
dbSNP: rs368005287
rs368005287
3 0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3731246
rs3731246
3 0.882 0.120 9 21971990 intron variant C/G snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
3 0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs3758149
rs3758149
GGH
3 0.882 0.120 8 63039169 upstream gene variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3794012
rs3794012
3 0.882 0.120 11 8248697 intron variant T/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs41320251
rs41320251
3 0.882 0.120 20 3213196 missense variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs414580
rs414580
3 0.882 0.120 8 16177793 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4149009
rs4149009
3 0.882 0.120 12 21267537 3 prime UTR variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs4237770
rs4237770
3 0.882 0.120 11 8254288 intron variant T/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs442264
rs442264
3 0.882 0.120 11 8242602 intron variant G/A snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs4646450
rs4646450
4 0.882 0.120 7 99668695 3 prime UTR variant G/A snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs4748793
rs4748793
4 0.851 0.120 10 22194082 intergenic variant A/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs525549
rs525549
3 0.882 0.120 11 118487353 intron variant T/A snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs57725551
rs57725551
3 0.882 0.120 21 45525868 synonymous variant G/T snv 5.3E-03 7.0E-03 0.010 1.000 1 2001 2001
dbSNP: rs6021191
rs6021191
5 0.851 0.120 20 51419700 intron variant A/T snv 4.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs62571442
rs62571442
3 0.882 0.120 9 134850278 non coding transcript exon variant G/A;C;T snv 0.58; 4.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs6461639
rs6461639
3 0.882 0.120 7 22147337 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6589664
rs6589664
3 0.882 0.120 11 118534089 synonymous variant G/A snv 0.30 0.27 0.010 1.000 1 2011 2011