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: rs1800206
rs1800206
17 0.707 0.286 22 46218377 missense variant C/G snp 4.3E-02 4.0E-02 0.030 0.667 3 2005 2007
dbSNP: rs738409
rs738409
55 0.590 0.536 22 43928847 missense variant C/G snp 0.28 0.22 0.030 1.000 3 2014 2015
dbSNP: rs4821480
rs4821480
9 0.801 0.143 22 36299201 intron variant G/T snp 0.79 0.020 0.500 2 2011 2013
dbSNP: rs12107
rs12107
3 1.000 0.036 22 36281936 3 prime UTR variant G/A,T snp 0.17 0.010 1.000 1 2013 2013
dbSNP: rs4253776
rs4253776
2 1.000 0.036 22 46233582 intron variant A/G snp 0.20 0.010 1.000 1 2007 2007
dbSNP: rs4253778
rs4253778
2 1.000 0.036 22 46234737 intron variant G/C,T snp 0.31; 9.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs5756152
rs5756152
2 1.000 0.036 22 36316427 intron variant A/G snp 0.90 0.010 1.000 1 2013 2013
dbSNP: rs769370836
rs769370836
3 0.923 0.107 22 39968202 A/G snp 6.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs11203203
rs11203203
6 0.846 0.179 21 42416077 intron variant G/A snp 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1543654
rs1543654
2 1.000 0.036 21 34426752 intergenic variant T/C snp 0.30 0.010 1.000 1 2016 2016
dbSNP: rs193922479
rs193922479
3 0.923 0.071 20 44424116 missense variant C/T snp 8.0E-06 0.020 1.000 2 2001 2001
dbSNP: rs181914932
rs181914932
2 1.000 0.036 20 45932640 T/C snp 1.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs1884614
rs1884614
4 0.923 0.071 20 44351879 non coding transcript exon variant C/T snp 0.18 0.010 < 0.001 1 2008 2008
dbSNP: rs2284912
rs2284912
2 1.000 0.036 20 17457568 intron variant T/C snp 1.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs4810424
rs4810424
3 0.923 0.071 20 44346383 intron variant G/C,T snp 0.18 0.010 1.000 1 2007 2007
dbSNP: rs4810479
rs4810479
5 1.000 0.036 20 45916409 intergenic variant C/T snp 0.68 0.010 1.000 1 2016 2016
dbSNP: rs6044695
rs6044695
2 1.000 0.036 20 17244293 intron variant A/T snp 0.42 0.010 1.000 1 2016 2016
dbSNP: rs753476712
rs753476712
3 0.923 0.071 20 44418452 missense variant G/A snp 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs779271027
rs779271027
2 1.000 0.036 20 44413723 missense variant A/C,G snp 4.0E-06; 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.030 0.667 3 2014 2016
dbSNP: rs1044250
rs1044250
7 0.878 0.143 19 8371280 missense variant C/T snp 0.30 0.29 0.010 1.000 1 2008 2008
dbSNP: rs11554159
rs11554159
5 0.846 0.179 19 18175134 missense variant G/A snp 0.23 0.24 0.010 1.000 1 2012 2012
dbSNP: rs11672433
rs11672433
3 1.000 0.036 19 8373832 synonymous variant G/A,C snp 0.10; 4.0E-06 9.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs12980275
rs12980275
11 0.769 0.143 19 39241143 intergenic variant A/G snp 0.35 0.010 1.000 1 2015 2015
dbSNP: rs4076317
rs4076317
2 1.000 0.036 19 8364115 intron variant C/G snp 0.25 0.010 1.000 1 2008 2008