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: 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: 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: 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: 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: 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
dbSNP: rs2097603
rs2097603
3 0.882 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2378672
rs2378672
1 1.000 0.040 9 85016119 intron variant C/T snv 0.93 0.010 1.000 1 2008 2008
dbSNP: rs301979
rs301979
2 0.925 0.040 9 4576851 intron variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs2071592
rs2071592
3 0.882 0.200 6 31547563 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs28521337
rs28521337
1 1.000 0.040 15 87978049 3 prime UTR variant C/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs3933331
rs3933331
1 1.000 0.040 9 4389941 upstream gene variant G/C snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs7858819
rs7858819
2 1.000 0.040 9 4559892 non coding transcript exon variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs9357271
rs9357271
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs1477437491
rs1477437491
2 0.925 0.040 1 162367213 missense variant G/A snv 2.8E-05 0.010 1.000 1 2010 2010
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: rs11583978
rs11583978
2 0.925 0.040 1 34864921 downstream gene variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1417182
rs1417182
1 1.000 0.040 6 101885466 intron variant G/A snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1556995
rs1556995
1 1.000 0.040 6 101869470 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3747767
rs3747767
2 1.000 0.040 6 79547564 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs4652867
rs4652867
1 1.000 0.040 1 34901689 intron variant G/A;T snv 0.010 1.000 1 2011 2011