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: rs1131692272
rs1131692272
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs1562846694
rs1562846694
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1553920383
rs1553920383
3 0.925 4 101032350 frameshift variant TC/- delins 0.700 0
dbSNP: rs869312873
rs869312873
5 0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1566823361
rs1566823361
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs1064796765
rs1064796765
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1057518961
rs1057518961
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs7973796
rs7973796
2 1.000 0.080 12 102202345 non coding transcript exon variant G/A snv 0.56 0.010 1.000 1 2007 2007
dbSNP: rs1060499740
rs1060499740
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1057524237
rs1057524237
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
dbSNP: rs750371878
rs750371878
4 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs759190203
rs759190203
2 1.000 0.040 6 10876442 splice donor variant -/A delins 4.0E-06 0.700 0
dbSNP: rs878853280
rs878853280
4 1.000 9 109137529 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281
4 1.000 9 109141360 stop gained C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282
4 1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs878853283
rs878853283
4 1.000 9 109149675 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1555303073
rs1555303073
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
dbSNP: rs80356726
rs80356726
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs869312666
rs869312666
4 0.925 0.160 1 11129789 missense variant A/C snv 0.700 0
dbSNP: rs869312671
rs869312671
5 0.882 0.160 1 11144735 missense variant C/T snv 0.700 0
dbSNP: rs398122394
rs398122394
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2012 2012