Source: ALL
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: rs113624356
rs113624356
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs113993959
rs113993959
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1294950721
rs1294950721
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs1441937959
rs1441937959
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555549674
rs1555549674
6 0.882 0.240 17 42223402 missense variant T/G snv 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs559979281
rs559979281
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs74597325
rs74597325
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs80359473
rs80359473
12 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs863225422
rs863225422
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs869312169
rs869312169
3 0.925 0.080 9 452067 frameshift variant -/T delins 0.700 0
dbSNP: rs2786098
rs2786098
1 1.000 0.080 1 197356778 intron variant T/A;G snv 0.810 1.000 1 2010 2010
dbSNP: rs404860
rs404860
2 0.925 0.160 6 32216568 non coding transcript exon variant T/C snv 0.21 0.810 1.000 1 2011 2011
dbSNP: rs7130588
rs7130588
4 0.882 0.200 11 76559639 regulatory region variant A/G snv 0.29 0.810 1.000 1 2011 2011
dbSNP: rs9268516
rs9268516
3 0.882 0.200 6 32411712 upstream gene variant C/T snv 0.24 0.810 1.000 1 2012 2012
dbSNP: rs987870
rs987870
4 0.851 0.160 6 33075103 intron variant A/G snv 0.19 0.810 1.000 1 2011 2011
dbSNP: rs10508372
rs10508372
1 1.000 0.080 10 8930055 intergenic variant G/A snv 0.14 0.800 1.000 1 2011 2011
dbSNP: rs1101999
rs1101999
1 1.000 0.080 1 158962765 intron variant C/T snv 0.92 0.800 1.000 1 2011 2011
dbSNP: rs11214966
rs11214966
1 1.000 0.080 11 114360533 intron variant T/C snv 0.13 0.800 1.000 1 2011 2011
dbSNP: rs1701704
rs1701704
5 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.800 1.000 1 2011 2011
dbSNP: rs204993
rs204993
5 0.851 0.240 6 32187804 intron variant A/G snv 0.24 0.26 0.800 1.000 1 2011 2011