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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 0.600 5 1999 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 12 2007 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2007 2007
dbSNP: rs375382379
rs375382379
5 0.882 0.160 5 143399792 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs550659379
rs550659379
5 0.882 0.160 5 143399780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2008 2008
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2008 2008
dbSNP: rs752834812
rs752834812
5 0.882 0.160 5 143399885 missense variant T/C snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs772651364
rs772651364
5 0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1048101
rs1048101
5 0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56 0.010 1.000 1 2009 2009
dbSNP: rs1383914
rs1383914
1 1.000 0.080 8 26865532 5 prime UTR variant T/C snv 0.47 0.010 1.000 1 2009 2009
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2009 2009
dbSNP: rs562010289
rs562010289
2 0.925 0.120 1 183227583 missense variant G/A;C snv 1.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.020 1.000 2 2012 2016
dbSNP: rs224222
rs224222
15 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 0.010 1.000 1 2012 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs6860
rs6860
1 1.000 0.080 16 89644712 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs75634836
rs75634836
11 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1126858
rs1126858
1 1.000 0.080 4 76021932 stop lost A/G snv 2.9E-04 2.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs35699176
rs35699176
1 1.000 0.080 19 2936537 stop gained G/A snv 3.1E-02 3.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs79448530
rs79448530
1 1.000 0.080 11 4577726 non coding transcript exon variant C/G;T snv 4.0E-06; 3.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2014 2018
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs11127292
rs11127292
2 0.925 0.160 2 2026171 intron variant C/T snv 0.11 0.010 1.000 1 2014 2014