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: rs2412973
rs2412973
2 1.000 0.080 22 30133642 intron variant C/A snv 0.54 0.810 1.000 1 2009 2009
dbSNP: rs8049439
rs8049439
5 0.925 0.120 16 28826194 intron variant T/C;G snv 0.38 0.810 1.000 1 2009 2009
dbSNP: rs10521318
rs10521318
1 16 85977731 intron variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10896794
rs10896794
1 11 58571651 intron variant T/C snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs11168249
rs11168249
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.800 1.000 1 2012 2012
dbSNP: rs11564258
rs11564258
2 1.000 0.040 12 40398498 intron variant G/A snv 3.1E-02 0.800 1.000 1 2012 2012
dbSNP: rs11612508
rs11612508
1 12 12504579 intron variant A/G snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs11672983
rs11672983
2 1.000 0.040 19 54871595 upstream gene variant G/A snv 0.35 0.800 1.000 1 2012 2012
dbSNP: rs1250546
rs1250546
3 0.925 0.080 10 79272775 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs12654812
rs12654812
5 0.925 0.120 5 177367190 intron variant G/A snv 0.34 0.800 1.000 1 2012 2012
dbSNP: rs1569723
rs1569723
6 0.851 0.280 20 46113425 upstream gene variant C/A snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs1734907
rs1734907
4 0.925 0.080 7 100717894 upstream gene variant A/G snv 0.84 0.800 1.000 1 2012 2012
dbSNP: rs194749
rs194749
2 1.000 0.040 14 68807188 intergenic variant T/C snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs2111485
rs2111485
17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.800 1.000 1 2012 2012
dbSNP: rs2155219
rs2155219
14 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.800 1.000 1 2012 2012
dbSNP: rs2227564
rs2227564
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.800 1.000 1 2012 2012
dbSNP: rs2231884
rs2231884
1 11 65889093 upstream gene variant C/T snv 0.16 0.800 1.000 1 2012 2012
dbSNP: rs2315008
rs2315008
4 0.925 0.120 20 63712604 intron variant T/G snv 0.70 0.800 1.000 1 2008 2008
dbSNP: rs2412970
rs2412970
1 22 30090837 intron variant A/G snv 0.55 0.800 1.000 1 2012 2012
dbSNP: rs2472649
rs2472649
1 4 73991991 upstream gene variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs2488389
rs2488389
3 0.925 0.040 1 197662011 intron variant G/A snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs2651244
rs2651244
2 1.000 0.040 1 70529879 upstream gene variant G/A snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs2790216
rs2790216
1 10 58238165 intron variant G/A snv 0.34 0.800 1.000 1 2012 2012
dbSNP: rs2930047
rs2930047
DAP
3 0.925 0.040 5 10695414 intron variant T/C snv 0.49 0.800 1.000 1 2012 2012
dbSNP: rs35675666
rs35675666
2 1.000 0.040 1 7961913 5 prime UTR variant G/C;T snv 0.800 1.000 1 2012 2012