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: rs1131339
rs1131339
2 0.925 0.080 9 99865020 3 prime UTR variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs1573496
rs1573496
7 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs3750344
rs3750344
1 1.000 0.080 9 98578034 synonymous variant T/C snv 0.16 0.19 0.010 1.000 1 2005 2005
dbSNP: rs2184026
rs2184026
1 1.000 0.080 9 98542066 intron variant C/G;T snv 0.25 0.010 1.000 1 2005 2005
dbSNP: rs2779562
rs2779562
1 1.000 0.080 9 98515399 intron variant T/C snv 0.48 0.010 1.000 1 2005 2005
dbSNP: rs2491397
rs2491397
1 1.000 0.080 9 98442880 intron variant C/T snv 0.50 0.010 1.000 1 2005 2005
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2014 2014
dbSNP: rs1329650
rs1329650
6 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1411836
rs1411836
1 1.000 0.080 9 89160966 intron variant C/G;T snv 0.12 0.010 1.000 1 2007 2007
dbSNP: rs4534195
rs4534195
1 1.000 0.080 9 89153733 intron variant C/T snv 0.66 0.010 1.000 1 2007 2007
dbSNP: rs1556384
rs1556384
1 1.000 0.080 9 89149212 intron variant T/C snv 0.93 0.010 1.000 1 2007 2007
dbSNP: rs1331188
rs1331188
1 1.000 0.080 9 89110472 intron variant G/T snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs1547696
rs1547696
1 1.000 0.080 9 89079205 intron variant T/C snv 0.60 0.010 1.000 1 2007 2007
dbSNP: rs3818668
rs3818668
1 1.000 0.080 9 89065616 intron variant C/G snv 0.76 0.64 0.010 1.000 1 2007 2007
dbSNP: rs2297313
rs2297313
1 1.000 0.080 9 89054447 intron variant A/G snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs4877042
rs4877042
1 1.000 0.080 9 89045243 intron variant T/C snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs3750399
rs3750399
1 1.000 0.080 9 89042048 synonymous variant T/A;C snv 0.71 0.010 1.000 1 2007 2007
dbSNP: rs12519
rs12519
1 1.000 0.080 9 89013167 3 prime UTR variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs6928499
rs6928499
1 1.000 0.080 6 88151570 intron variant G/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1312171358
rs1312171358
1 1.000 0.080 6 88144597 synonymous variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs12720071
rs12720071
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 1.000 1 2008 2008