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: rs1000952
rs1000952
1 1.000 0.040 3 184038034 missense variant G/A;C;T snv 0.66; 3.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7627615
rs7627615
2 0.925 0.040 3 184100628 missense variant G/A;C snv 0.64; 4.0E-06 0.010 1.000 1 2014 2014
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: 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: rs6443930
rs6443930
1 1.000 0.040 3 184036506 splice donor variant G/A;C;T snv 0.46; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6766410
rs6766410
2 1.000 0.040 3 184056974 missense variant C/A;T snv 0.45; 4.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2013 2013
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: 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: 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: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2016 2016
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: rs2857766
rs2857766
MOG
4 0.882 0.120 6 29666226 missense variant G/C snv 0.22 0.19 0.010 1.000 1 2010 2010
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: 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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2014 2014
dbSNP: rs12682807
rs12682807
1 1.000 0.040 9 4574022 splice region variant A/C snv 0.11 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs2289664
rs2289664
2 0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02 0.010 1.000 1 2013 2013
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: 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: rs7628229
rs7628229
1 1.000 0.040 3 184036872 missense variant C/G;T snv 6.4E-06; 2.7E-03 9.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs1800042
rs1800042
2 1.000 0.040 5 63960902 missense variant C/A;T snv 8.0E-06; 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs150504822
rs150504822
1 1.000 0.040 13 83880256 missense variant T/A snv 1.3E-03 1.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs28914832
rs28914832
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.020 1.000 2 2011 2013
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