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: rs869312713
rs869312713
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs140119177
rs140119177
7 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 0.700 0
dbSNP: rs1569324457
rs1569324457
7 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
dbSNP: rs751093906
rs751093906
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1057519565
rs1057519565
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1562203136
rs1562203136
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs121434341
rs121434341
10 0.807 0.360 8 60855993 missense variant C/A;T snv 0.700 0
dbSNP: rs1567941252
rs1567941252
10 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
dbSNP: rs397515415
rs397515415
10 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
dbSNP: rs1554504663
rs1554504663
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
dbSNP: rs201439531
rs201439531
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs769234940
rs769234940
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-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: rs1554781700
rs1554781700
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555038029
rs1555038029
12 0.776 0.400 11 118477973 stop gained C/A 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: rs868064163
rs868064163
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518914
rs1057518914
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1562150844
rs1562150844
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs771237928
rs771237928
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1114167445
rs1114167445
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555640521
rs1555640521
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1563686762
rs1563686762
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs387906702
rs387906702
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
dbSNP: rs398122394
rs398122394
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 0