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: rs460000
rs460000
1 1.000 0.040 5 1432710 intron variant G/A;C;T snv 1.6E-05; 0.31 0.010 1.000 1 2010 2010
dbSNP: rs4689642
rs4689642
1 1.000 0.040 4 7213595 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 < 0.001 1 2013 2013
dbSNP: rs4846049
rs4846049
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4984687
rs4984687
1 1.000 0.040 16 704314 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs5016282
rs5016282
1 1.000 0.040 11 89008492 intron variant A/G snv 0.800 1.000 1 2011 2011
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs56037433
rs56037433
2 0.925 0.040 2 161719475 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs58502974
rs58502974
2 0.925 0.040 5 7755787 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs5905859
rs5905859
1 1.000 0.040 X 43732253 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 < 0.001 1 2003 2003
dbSNP: rs6323
rs6323
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs6497416
rs6497416
1 1.000 0.040 16 19864823 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6539247
rs6539247
1 1.000 0.040 12 106066124 3 prime UTR variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs6565113
rs6565113
3 0.925 0.040 16 83074041 intron variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6686722
rs6686722
1 1.000 0.040 1 175764827 intergenic variant C/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs6947495
rs6947495
1 1.000 0.040 7 153855979 intergenic variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7094182
rs7094182
2 0.925 0.120 10 8484656 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs7124601
rs7124601
1 1.000 0.040 11 639273 intron variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs7164335
rs7164335
1 1.000 0.040 15 68422693 intron variant A/C;G snv 0.800 1.000 1 2008 2008
dbSNP: rs7181782
rs7181782
1 1.000 0.040 15 80394651 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7194256
rs7194256
7 0.827 0.120 16 55703779 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs734644
rs734644
1 1.000 0.040 4 61935010 missense variant T/A;C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs7448069
rs7448069
1 1.000 0.040 5 175817031 intron variant C/A;T snv 0.700 1.000 1 2013 2013