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: rs10485165
rs10485165
3 6 88403098 intron variant C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs10518765
rs10518765
3 1.000 0.040 15 54388434 intron variant A/C snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs1119582
rs1119582
1 5 125907327 intron variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs1594468
rs1594468
1 4 140466284 intron variant C/T snv 0.25 0.700 1.000 1 2007 2007
dbSNP: rs1998303
rs1998303
3 9 82800066 intergenic variant A/G snv 0.37 0.700 1.000 1 2007 2007
dbSNP: rs2387326
rs2387326
2 10 128135192 intergenic variant C/T snv 0.24 0.700 1.000 1 2007 2007
dbSNP: rs465384
rs465384
1 5 125907327 intron variant T/C snv 0.14 0.700 1.000 1 2007 2007
dbSNP: rs746961
rs746961
1 19 30608983 intron variant A/G snv 0.46 0.800 1.000 1 2007 2007
dbSNP: rs7552393
rs7552393
1 1 83788868 intron variant A/G snv 0.57 0.700 1.000 1 2007 2007
dbSNP: rs10778213
rs10778213
1 12 103101373 intron variant T/C snv 0.57 0.800 1.000 1 2008 2008
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs12037222
rs12037222
1 1 39599289 regulatory region variant G/A snv 0.16 0.800 1.000 1 2011 2011
dbSNP: rs2097677
rs2097677
1 7 22693220 intron variant G/A snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs2847281
rs2847281
3 1.000 0.040 18 12821594 intron variant A/G snv 0.32 0.800 1.000 1 2011 2011
dbSNP: rs340029
rs340029
1 15 60602766 intron variant C/T snv 0.70 0.800 1.000 1 2011 2011
dbSNP: rs4705952
rs4705952
1 5 132503926 intron variant G/A snv 0.62 0.800 1.000 1 2011 2011
dbSNP: rs6901250
rs6901250
1 6 116792862 synonymous variant G/A snv 0.33 0.29 0.800 1.000 1 2011 2011
dbSNP: rs10489849
rs10489849
1 1 159226975 regulatory region variant C/A;T snv 0.700 1.000 2 2007 2012
dbSNP: rs2494250
rs2494250
1 1 159308461 downstream gene variant G/C;T snv 0.700 1.000 2 2007 2012
dbSNP: rs4128725
rs4128725
1 1 159436169 intron variant T/C;G snv 0.700 1.000 2 2007 2012
dbSNP: rs1008924
rs1008924
1 14 51616362 intron variant G/A snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs10429953
rs10429953
CR1
1 1 207615233 intron variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10437340
rs10437340
1 1 159741019 intergenic variant G/C snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs10751037
rs10751037
1 11 81025386 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10779330
rs10779330
CR1
1 1 207589329 intron variant G/A snv 0.22 0.700 1.000 1 2012 2012