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: rs10116277
rs10116277
8 0.827 0.160 9 22081398 intron variant G/T snv 0.62 0.010 < 0.001 1 2013 2013
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 < 0.001 1 2006 2006
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 1996 1996
dbSNP: rs133049
rs133049
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 < 0.001 1 2018 2018
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs151290
rs151290
2 1.000 0.080 11 2800385 intron variant A/C snv 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs1537375
rs1537375
6 0.882 0.120 9 22116072 intron variant T/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 < 0.001 1 2005 2005
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 < 0.001 1 2010 2010
dbSNP: rs2167270
rs2167270
LEP
17 0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37 0.010 < 0.001 1 2011 2011
dbSNP: rs220733
rs220733
3 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 0.010 < 0.001 1 2011 2011
dbSNP: rs2237895
rs2237895
10 0.790 0.240 11 2835964 intron variant A/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2241883
rs2241883
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.010 < 0.001 1 2007 2007
dbSNP: rs309180
rs309180
2 2 135856685 intron variant G/A snv 0.54 0.50 0.010 < 0.001 1 2016 2016
dbSNP: rs3217992
rs3217992
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 < 0.001 1 2018 2018
dbSNP: rs368939818
rs368939818
13 0.763 0.280 11 49156734 missense variant G/A snv 4.0E-05 2.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs41507953
rs41507953
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 < 0.001 1 2011 2011
dbSNP: rs4638289
rs4638289
2 1.000 0.080 11 18264227 upstream gene variant A/T snv 0.67 0.010 < 0.001 1 2009 2009
dbSNP: rs4923461
rs4923461
5 0.925 0.120 11 27635363 intron variant A/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 < 0.001 1 1994 1994
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 < 0.001 1 1996 1996
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 < 0.001 1 2013 2013