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: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1057518879
rs1057518879
19 0.776 0.280 1 11965571 stop gained G/A snv 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: 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: rs139632595
rs139632595
19 0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 0.700 0
dbSNP: rs867410737
rs867410737
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1380822792
rs1380822792
7 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
dbSNP: rs587782995
rs587782995
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs1554641549
rs1554641549
3 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0
dbSNP: rs1057518681
rs1057518681
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1085307139
rs1085307139
5 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
dbSNP: rs1085307138
rs1085307138
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs1085307132
rs1085307132
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs1554643142
rs1554643142
4 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0
dbSNP: rs1218912272
rs1218912272
8 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs869025195
rs869025195
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs141322087
rs141322087
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1344172059
rs1344172059
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1558939623
rs1558939623
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs869312824
rs869312824
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs869312823
rs869312823
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs752298579
rs752298579
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0