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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.090 0.778 9 1999 2016
dbSNP: rs56151798
rs56151798
1 1.000 0.040 11 18022863 synonymous variant A/G snv 6.0E-03 6.4E-03 0.010 1.000 1 1999 1999
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2002 2002
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 0.800 5 2003 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2004 2004
dbSNP: rs1799972
rs1799972
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 1.000 1 2004 2004
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.733 15 2006 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.714 14 2006 2019
dbSNP: rs301434
rs301434
2 0.925 0.040 9 4582082 intron variant C/G;T snv 0.040 1.000 4 2006 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2006 2018
dbSNP: rs301435
rs301435
1 1.000 0.040 9 4582843 intron variant T/C snv 0.54 0.010 1.000 1 2006 2006
dbSNP: rs4565946
rs4565946
7 0.827 0.080 12 71942989 intron variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2006 2006
dbSNP: rs301430
rs301430
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.060 1.000 6 2007 2019
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.060 0.833 6 2007 2018
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.600 5 2007 2018
dbSNP: rs2228622
rs2228622
1 1.000 0.040 9 4564432 synonymous variant G/A snv 0.39 0.35 0.030 1.000 3 2007 2019
dbSNP: rs762178
rs762178
2 0.925 0.040 21 33027093 synonymous variant A/G snv 0.51 0.53 0.030 1.000 3 2007 2019
dbSNP: rs9653711
rs9653711
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.030 1.000 3 2007 2019
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.020 1.000 2 2007 2015
dbSNP: rs3780412
rs3780412
1 1.000 0.040 9 4572480 intron variant T/C;G snv 0.020 1.000 2 2007 2019
dbSNP: rs13046814
rs13046814
1 1.000 0.040 21 33029069 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs6517137
rs6517137
3 0.882 0.120 21 33028471 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs25532
rs25532
5 0.851 0.160 17 30237152 upstream gene variant G/A snv 6.3E-02 0.030 0.667 3 2008 2018
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2008 2008