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: rs191284403
rs191284403
1 1.000 0.120 13 83878728 3 prime UTR variant C/A;T snv 0.700 0
dbSNP: rs193302861
rs193302861
2 0.925 0.120 13 83880244 frameshift variant G/- delins 0.700 0
dbSNP: rs1800044
rs1800044
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 1996 1996
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2000 2000
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2004 2004
dbSNP: rs61752115
rs61752115
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs779610480
rs779610480
1 1.000 0.120 13 83880800 synonymous variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs11264126
rs11264126
1 1.000 0.120 1 34876494 intron variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs12141243
rs12141243
1 1.000 0.120 1 34881321 intron variant T/C snv 9.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs2032892
rs2032892
1 1.000 0.120 5 36676981 missense variant G/C snv 2.5E-02 1.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs267606861
rs267606861
HDC
1 1.000 0.120 15 50252520 stop gained C/T snv 0.710 1.000 1 2012 2012
dbSNP: rs3813929
rs3813929
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1805404
rs1805404
3 0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2289664
rs2289664
2 0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs25532
rs25532
5 0.851 0.160 17 30237152 upstream gene variant G/A snv 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs28365054
rs28365054
1 1.000 0.120 14 89963514 missense variant G/A;C snv 3.9E-02; 6.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs28914832
rs28914832
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs9357271
rs9357271
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.030 1.000 3 2009 2014
dbSNP: rs9296249
rs9296249
3 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.020 1.000 2 2012 2014
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2014 2014