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: rs2072906
rs2072906
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2853744
rs2853744
4 0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs6715787
rs6715787
4 0.851 0.200 2 46349033 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9277542
rs9277542
4 0.851 0.280 6 33087470 3 prime UTR variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs10853728
rs10853728
5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11977021
rs11977021
5 0.827 0.240 7 106288069 upstream gene variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs2233682
rs2233682
5 0.827 0.240 19 9838476 synonymous variant G/A snv 3.7E-02 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs705382
rs705382
5 0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs8177832
rs8177832
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.010 1.000 1 2017 2017
dbSNP: rs9277378
rs9277378
5 0.827 0.320 6 33082502 intron variant A/G snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs2070150
rs2070150
6 0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2517459
rs2517459
6 0.882 0.160 6 30929245 downstream gene variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs9275319
rs9275319
6 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs3130542
rs3130542
8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.020 1.000 2 2015 2016
dbSNP: rs1061624
rs1061624
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs13419896
rs13419896
8 0.776 0.240 2 46329206 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1805011
rs1805011
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs4823173
rs4823173
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.010 1.000 1 2015 2015
dbSNP: rs2280883
rs2280883
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2284553
rs2284553
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs120074192
rs120074192
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2019 2019