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: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.700 1.000 2 2010 2011
dbSNP: rs10205816
rs10205816
2 2 43817116 intron variant A/G snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs11022982
rs11022982
2 11 13841158 intron variant T/C snv 1.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs12637730
rs12637730
3 3 133827453 3 prime UTR variant C/T snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs17342717
rs17342717
8 6 25821542 intron variant C/T snv 6.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
dbSNP: rs2275335
rs2275335
2 1 218913054 intron variant T/C snv 6.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs307412
rs307412
2 8 141601769 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs6781238
rs6781238
2 3 133579276 intron variant C/T snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs7105390
rs7105390
2 11 89201166 intron variant T/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs7598519
rs7598519
2 2 239729660 intergenic variant A/C snv 9.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs7827820
rs7827820
2 8 111101950 intron variant A/G snv 1.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs799882
rs799882
2 8 116248203 intron variant G/A snv 0.99 0.700 1.000 1 2011 2011
dbSNP: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 1 2010 2010