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: rs17326792
rs17326792
1 1.000 0.040 3 131073 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1878169
rs1878169
1 1.000 0.040 3 123429 intron variant A/T snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs200590764
rs200590764
1 1.000 0.040 10 101216904 intergenic variant -/T delins 6.6E-03 0.700 1.000 1 2011 2011
dbSNP: rs202193096
rs202193096
2 0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04 0.700 1.000 1 2015 2015
dbSNP: rs2393069
rs2393069
1 1.000 0.040 10 56359144 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs3950032
rs3950032
1 1.000 0.040 10 101214352 TF binding site variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs431905504
rs431905504
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs4684051
rs4684051
1 1.000 0.040 3 136842 intron variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs594791
rs594791
1 1.000 0.040 10 101236039 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs678741
rs678741
4 0.851 0.200 10 101237824 intron variant G/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs76319884
rs76319884
1 1.000 0.040 10 101216249 intergenic variant C/G snv 8.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs7639674
rs7639674
1 1.000 0.040 3 130837 non coding transcript exon variant A/T snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs7914775
rs7914775
1 1.000 0.040 10 101216904 intergenic variant C/T snv 8.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs797045164
rs797045164
8 0.851 0.120 2 240785063 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs965084
rs965084
1 1.000 0.040 3 125415 intron variant G/C snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs9819101
rs9819101
1 1.000 0.040 3 124824 intron variant G/A;C snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518789
rs1057518789
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs1057518812
rs1057518812
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518828
rs1057518828
1 1.000 0.040 17 44911317 missense variant T/G snv 0.700 0
dbSNP: rs1057518891
rs1057518891
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1057518908
rs1057518908
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1057520063
rs1057520063
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0