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: rs3077
rs3077
12 0.734 0.321 6 33065245 3 prime UTR variant A/G snp 0.28 0.050 0.600 5 2012 2014
dbSNP: rs738409
rs738409
55 0.590 0.536 22 43928847 missense variant C/G snp 0.28 0.22 0.040 1.000 4 2014 2016
dbSNP: rs9277535
rs9277535
8 0.769 0.321 6 33087084 3 prime UTR variant A/G snp 0.25 0.040 1.000 4 2012 2015
dbSNP: rs3130542
rs3130542
4 0.846 0.143 6 31264334 regulatory region variant A/G snp 0.80 0.020 1.000 2 2015 2016
dbSNP: rs7574865
rs7574865
36 0.618 0.571 2 191099907 intron variant T/G snp 0.79 0.020 1.000 2 2014 2016
dbSNP: rs10853728
rs10853728
5 0.821 0.143 19 39254506 regulatory region variant C/A,G,T snp 6.4E-05; 0.69 0.010 1.000 1 2013 2013
dbSNP: rs120074192
rs120074192
6 0.821 0.107 11 2527959 missense variant A/G snp 0.010 1.000 1 2007 2007
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1419881
rs1419881
3 0.878 0.143 6 31162816 3 prime UTR variant G/A snp 0.50 0.010 1.000 1 2014 2014
dbSNP: rs17401966
rs17401966
6 0.801 0.250 1 10325413 intron variant A/G snp 0.24 0.010 < 0.001 1 2012 2012
dbSNP: rs199473565
rs199473565
3 0.878 0.107 3 38606743 missense variant C/T snp 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2072906
rs2072906
4 0.846 0.143 22 43937292 intron variant A/G snp 0.25 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2280883
rs2280883
4 0.846 0.214 X 49252667 intron variant T/C snp 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs2284553
rs2284553
9 0.769 0.214 21 33404389 intron variant A/G snp 0.68 0.010 < 0.001 1 2014 2014
dbSNP: rs2517459
rs2517459
3 0.878 0.143 6 30929245 regulatory region variant T/C snp 0.75 0.010 1.000 1 2016 2016
dbSNP: rs2532932
rs2532932
2 0.923 0.143 6 30927667 intergenic variant A/G snp 0.75 0.010 1.000 1 2016 2016
dbSNP: rs2856718
rs2856718
7 0.801 0.321 6 32702478 intergenic variant C/T snp 0.34 0.010 1.000 1 2012 2012
dbSNP: rs35761398
rs35761398
8 0.769 0.321 1 23875429 missense variant TT/CC multinucleotide-polymorphism 0.010 1.000 1 2016 2016
dbSNP: rs3747206
rs3747206
3 0.878 0.143 22 43928850 synonymous variant snp 0.010 1.000 1 2016 2016
dbSNP: rs3761549
rs3761549
6 0.846 0.214 X 49260888 intron variant G/A snp 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3775291
rs3775291
30 0.647 0.464 4 186082920 missense variant C/G,T snp 1.2E-04; 0.28 1.6E-04; 0.24 0.010 1.000 1 2013 2013
dbSNP: rs400488
rs400488
1 1.000 0.071 6 29975258 non coding transcript exon variant G/A snp 0.19 0.20 0.010 1.000 1 2016 2016
dbSNP: rs4823173
rs4823173
4 0.846 0.179 22 43932850 intron variant G/A snp 0.24 0.18 0.010 1.000 1 2016 2016
dbSNP: rs7453920
rs7453920
7 0.784 0.357 6 32762235 intron variant A/G,T snp 0.63 0.010 1.000 1 2012 2012
dbSNP: rs757537938
rs757537938
2 0.923 0.107 6 31943672 stop lost A/C snp 4.1E-06 0.010 1.000 1 2013 2013