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: rs2376803
rs2376803
1 1 2036515 intergenic variant C/T snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs2376805
rs2376805
1 1 2024923 non coding transcript exon variant G/A snv 0.80 0.81 0.010 1.000 1 2010 2010
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs3794808
rs3794808
1 17 30204775 intron variant C/T snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 < 0.001 1 2010 2010
dbSNP: rs41279104
rs41279104
6 0.827 0.160 12 117439680 intron variant C/T snv 0.11 0.010 < 0.001 1 2010 2010
dbSNP: rs4713916
rs4713916
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs885861
rs885861
1 7 159028856 3 prime UTR variant G/A snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs9316235
rs9316235
2 13 46871568 intron variant G/A snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.020 < 0.001 2 2010 2011
dbSNP: rs1997679
rs1997679
6 0.882 0.120 6 15658674 intron variant G/A snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs9370822
rs9370822
7 0.882 0.120 6 15544505 intron variant A/C snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.020 1.000 2 2012 2012
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.020 1.000 2 2011 2012
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs2072621
rs2072621
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs8007267
rs8007267
6 0.882 0.200 14 54912273 intergenic variant C/T snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs841
rs841
8 0.827 0.200 14 54843774 splice region variant G/A snv 0.22 0.22 0.010 1.000 1 2012 2012
dbSNP: rs878567
rs878567
4 0.882 0.040 5 63960164 intron variant A/C;G snv 0.020 1.000 2 2010 2013
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 0.500 2 2006 2013
dbSNP: rs1653625
rs1653625
1 12 121185082 3 prime UTR variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs16940655
rs16940655
1 17 45816520 missense variant C/A;T snv 4.0E-06; 6.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs28536160
rs28536160
1 1 206117948 intron variant A/G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs4076452
rs4076452
2 1.000 0.040 17 45778528 intron variant G/C snv 0.16 0.010 1.000 1 2013 2013