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: 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: rs10484554
rs10484554
5 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs10808739
rs10808739
1 0.882 8 64727703 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
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: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
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: rs2234591
rs2234591
WT1
2 0.925 0.080 11 32399873 intron variant T/C snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs2294367
rs2294367
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
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: rs3736685
rs3736685
1 1.000 22 39081386 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs3869068
rs3869068
1 0.925 6 30036275 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs6001417
rs6001417
1 1.000 22 39081372 intron variant C/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs7103534
rs7103534
1 1.000 11 108040925 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs9264942
rs9264942
8 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2017 2017
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: rs1799864
rs1799864
66 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.070 0.857 7 2002 2015
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: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.030 1.000 3 2002 2014
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: 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: rs1047552
rs1047552
2 0.925 0.080 15 63305658 missense variant T/A;G snv 6.1E-02 4.7E-02 0.010 1.000 1 2009 2009
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: rs1126478
rs1126478
LTF
10 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2015 2015