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: rs12711521
rs12711521
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs6444305
rs6444305
LPP
2 0.925 0.120 3 188582114 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4937362
rs4937362
5 0.827 0.240 11 128622844 intron variant T/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs2682818
rs2682818
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1392080411
rs1392080411
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs568408
rs568408
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs9808753
rs9808753
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011
dbSNP: rs9268853
rs9268853
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs28530648
rs28530648
1 1.000 0.120 6 32559302 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs28605404
rs28605404
1 1.000 0.120 6 32601910 intergenic variant A/G snv 0.10 0.700 1.000 1 2012 2012
dbSNP: rs9274614
rs9274614
1 1.000 0.120 6 32668069 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs3117222
rs3117222
3 0.882 0.280 6 33093172 intron variant C/T snv 0.33 0.720 1.000 2 2012 2014
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs735665
rs735665
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs372411058
rs372411058
1 1.000 0.120 1 161626395 synonymous variant C/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3020314
rs3020314
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs3212961
rs3212961
7 0.827 0.200 19 45419065 intron variant G/A;T snv 1.9E-04; 0.20 0.010 1.000 1 2014 2014
dbSNP: rs2855429
rs2855429
2 0.925 0.120 6 33190412 intron variant A/C snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs10190751
rs10190751
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009