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: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.050 1.000 5 2012 2016
dbSNP: rs1789891
rs1789891
4 1.000 0.080 4 99329262 intron variant C/A snv 0.13 0.820 1.000 4 2012 2019
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.720 1.000 4 2014 2019
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.040 0.750 4 2010 2017
dbSNP: rs13273672
rs13273672
2 0.925 0.080 8 11754872 intron variant T/C snv 0.34 0.030 0.667 3 2014 2016
dbSNP: rs1000579
rs1000579
3 1.000 0.080 4 4717767 intron variant A/G snv 0.44 0.800 1.000 2 2012 2017
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.020 1.000 2 2005 2006
dbSNP: rs1042364
rs1042364
1 1.000 0.080 4 99124423 stop gained T/A;C snv 0.78 0.020 1.000 2 2011 2016
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2014 2017
dbSNP: rs2173201
rs2173201
3 1.000 0.080 4 99329813 intron variant C/A snv 0.30 0.710 1.000 2 2014 2014
dbSNP: rs2281285
rs2281285
2 0.925 0.080 20 1991814 intron variant T/C snv 0.16 0.020 1.000 2 2013 2015
dbSNP: rs248793
rs248793
1 1.000 0.080 5 6633666 synonymous variant C/G snv 0.55 0.58 0.020 1.000 2 2011 2014
dbSNP: rs29220
rs29220
1 1.000 0.080 6 29621889 intron variant C/G snv 0.31 0.020 1.000 2 2016 2018
dbSNP: rs3027172
rs3027172
2 0.925 0.080 17 8152405 missense variant A/G snv 0.38 0.17 0.020 1.000 2 2011 2015
dbSNP: rs324650
rs324650
5 0.827 0.080 7 137008914 intron variant T/A snv 0.55 0.020 1.000 2 2004 2011
dbSNP: rs363387
rs363387
1 1.000 0.080 10 117244053 synonymous variant T/A;C;G snv 4.0E-06; 7.9E-02 0.020 1.000 2 2005 2013
dbSNP: rs3762894
rs3762894
2 1.000 0.080 4 99144933 intron variant T/C snv 0.19 0.020 1.000 2 2011 2011
dbSNP: rs6350
rs6350
3 0.882 0.080 5 1443084 missense variant G/A;C snv 5.6E-02; 6.8E-05 0.020 1.000 2 2009 2017
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs896543
rs896543
3 1.000 0.080 2 236600564 intergenic variant G/A snv 0.33 0.800 1.000 2 2013 2014
dbSNP: rs9291283
rs9291283
2 0.925 0.080 4 46369816 intron variant G/A;T snv 0.020 0.500 2 2014 2015
dbSNP: rs9886351
rs9886351
2 0.925 0.080 7 70783483 non coding transcript exon variant A/G snv 0.33 0.020 1.000 2 2016 2017
dbSNP: rs10009145
rs10009145
1 1.000 0.080 4 99126778 intron variant G/A snv 0.39 0.34 0.010 1.000 1 2012 2012
dbSNP: rs10051667
rs10051667
2 0.925 0.080 5 161471322 intron variant T/C snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs10160548
rs10160548
1 1.000 0.080 11 113985959 intron variant G/T snv 0.54 0.010 1.000 1 2013 2013