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: rs2138852
rs2138852
1 17 29376331 intron variant C/G;T snv 0.800 1.000 3 2009 2012
dbSNP: rs11734132
rs11734132
1 4 6889792 intergenic variant G/C snv 0.17 0.800 1.000 2 2011 2014
dbSNP: rs6136489
rs6136489
1 20 1943088 upstream gene variant T/G snv 0.46 0.800 1.000 2 2009 2012
dbSNP: rs8076739
rs8076739
1 17 29387569 intron variant C/T snv 0.64 0.800 1.000 2 2011 2014
dbSNP: rs11065987
rs11065987
12 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs111355755
rs111355755
1 3 171832858 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs11653144
rs11653144
1 17 29348208 upstream gene variant C/T snv 0.43 0.800 1.000 1 2012 2012
dbSNP: rs13042885
rs13042885
1 20 1944061 upstream gene variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs17655730
rs17655730
1 11 270715 intergenic variant T/C snv 0.20 0.800 1.000 1 2011 2011
dbSNP: rs192856
rs192856
1 4 126578990 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2950390
rs2950390
1 12 56661507 downstream gene variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs385893
rs385893
3 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs4753176
rs4753176
1 11 95557690 regulatory region variant G/C;T snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs4812048
rs4812048
1 20 59012716 intergenic variant C/T snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs9494145
rs9494145
7 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6490294
rs6490294
1 12 111752634 intron variant C/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs4305276
rs4305276
1 2 240555596 intron variant C/A;G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs16971217
rs16971217
1 17 35617036 intron variant C/A;G snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs12485738
rs12485738
1 3 56831748 intron variant A/G snv 0.63 0.800 1.000 3 2009 2012
dbSNP: rs1354034
rs1354034
2 3 56815721 intron variant T/C snv 0.49 0.800 1.000 2 2011 2019
dbSNP: rs739496
rs739496
3 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs477895
rs477895
1 11 64281440 intron variant C/T snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs210134
rs210134
2 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs11602954
rs11602954
2 11 202856 intron variant G/A snv 0.17 0.800 1.000 2 2009 2012
dbSNP: rs3000073
rs3000073
1 14 105263455 intron variant G/A snv 0.28 0.800 1.000 1 2011 2011