Source: BEFREE ×
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: rs8321
rs8321
1 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs8177832
rs8177832
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.040 1.000 4 2008 2018
dbSNP: rs12252
rs12252
22 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1799937
rs1799937
WT1
3 0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35 0.010 1.000 1 2005 2005
dbSNP: rs2074560
rs2074560
MX2
2 0.925 0.040 21 41380411 intron variant A/G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2301254
rs2301254
3 0.882 0.160 11 32436129 intron variant A/G snv 0.48 0.010 1.000 1 2005 2005
dbSNP: rs7117111
rs7117111
1 1.000 11 108046360 synonymous variant A/G snv 0.68 0.59 0.010 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs11212495
rs11212495
1 1.000 11 108048172 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1291142
rs1291142
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs6850
rs6850
9 0.790 0.160 7 44796715 5 prime UTR variant A/G;T snv 0.26; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2294367
rs2294367
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs147879075
rs147879075
1 1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs146215995
rs146215995
1 1.000 11 5679850 missense variant C/A;T snv 8.0E-06; 9.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs6001417
rs6001417
1 1.000 22 39081372 intron variant C/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1063320
rs1063320
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs35228531
rs35228531
1 1.000 22 39087839 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs11038628
rs11038628
1 1.000 11 5667710 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2013 2019
dbSNP: rs10484554
rs10484554
5 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs10831234
rs10831234
1 1.000 11 94500021 downstream gene variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1126477
rs1126477
LTF
6 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 1.000 1 2015 2015
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs1800451
rs1800451
8 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.010 1.000 1 2003 2003