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: rs3211852
rs3211852
2 7 80654305 intron variant A/G snv 0.99 0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
6 1 162323515 intron variant A/G snv 0.99 0.700 1.000 1 2012 2012
dbSNP: rs830948
rs830948
3 2 169358254 intron variant G/A snv 0.99 0.700 1.000 1 2012 2012
dbSNP: rs7100433
rs7100433
3 10 133370298 intron variant T/C snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs2321168
rs2321168
4 13 33279354 non coding transcript exon variant G/A snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs675504
rs675504
5 11 102959002 upstream gene variant A/G snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs2819368
rs2819368
2 1 201941435 intron variant C/T snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs567279
rs567279
4 1 66222346 intron variant G/T snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs1365771
rs1365771
2 15 58568503 intron variant T/A snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs2820301
rs2820301
2 1 201943694 intron variant G/A snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs11921179
rs11921179
TRH
5 3 129976195 intron variant G/A snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs2661814
rs2661814
2 1 162350216 intron variant G/A snv 0.95 0.700 1.000 1 2012 2012
dbSNP: rs6913696
rs6913696
2 6 52795833 intron variant T/C snv 0.95 0.700 1.000 1 2012 2012
dbSNP: rs9326246
rs9326246
9 0.925 0.040 11 116741017 intergenic variant C/G snv 0.93 0.700 1.000 1 2013 2013
dbSNP: rs2819371
rs2819371
2 1 201946530 5 prime UTR variant A/C snv 0.92 0.700 1.000 1 2012 2012
dbSNP: rs505151
rs505151
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.700 1.000 2 2012 2012
dbSNP: rs9987289
rs9987289
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.700 1.000 2 2010 2013
dbSNP: rs570877
rs570877
3 2 21028168 intron variant T/G snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs2126259
rs2126259
9 1.000 8 9327636 intron variant T/C snv 0.87 0.700 1.000 1 2010 2010
dbSNP: rs550619
rs550619
3 2 21037729 intron variant G/A snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs531819
rs531819
3 2 21040767 intron variant T/G snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs562556
rs562556
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.700 1.000 1 2012 2012
dbSNP: rs643257
rs643257
2 1 55062245 intron variant C/T snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 2 2010 2013
dbSNP: rs631220
rs631220
2 1 55061806 intron variant A/G snv 0.82 0.700 1.000 1 2012 2012