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: rs1057517843
rs1057517843
2 1.000 0.240 12 49185725 missense variant C/A;T snv 0.700 0
dbSNP: rs1057518772
rs1057518772
1 20 63433860 missense variant A/C;G snv 0.700 0
dbSNP: rs1057518777
rs1057518777
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs1057518781
rs1057518781
7 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1057518782
rs1057518782
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518799
rs1057518799
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518800
rs1057518800
2 12 13567228 missense variant C/T snv 0.700 0
dbSNP: rs1057518850
rs1057518850
2 1.000 0.040 X 147928320 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057518872
rs1057518872
5 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
dbSNP: rs1057518913
rs1057518913
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs1057518918
rs1057518918
6 0.882 0.160 6 157184329 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518926
rs1057518926
5 0.925 0.120 3 70977675 missense variant G/C snv 0.700 0
dbSNP: rs1057518939
rs1057518939
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs1057519381
rs1057519381
6 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
dbSNP: rs1057519392
rs1057519392
2 1.000 0.160 1 151412348 missense variant A/G snv 0.700 0
dbSNP: rs1057519393
rs1057519393
2 1.000 0.080 X 53197768 splice donor variant -/A delins 0.700 0
dbSNP: rs1057519394
rs1057519394
2 1.000 0.280 X 136002195 frameshift variant T/- delins 0.700 0
dbSNP: rs1057519395
rs1057519395
2 1.000 0.080 22 50721861 frameshift variant TG/- delins 0.700 0
dbSNP: rs1057519398
rs1057519398
2 1.000 0.080 X 53409218 frameshift variant -/G ins 0.700 0
dbSNP: rs1057519399
rs1057519399
2 1.000 0.280 16 89281038 frameshift variant A/- del 0.700 0
dbSNP: rs1057519400
rs1057519400
2 1.000 0.160 6 33440958 frameshift variant TT/- delins 0.700 0
dbSNP: rs1057519402
rs1057519402
2 1.000 21 37478266 frameshift variant CTTGA/- delins 0.700 0
dbSNP: rs1057519403
rs1057519403
2 1.000 0.240 11 118499835 missense variant G/A snv 0.700 0
dbSNP: rs1057519404
rs1057519404
2 1.000 0.080 X 154030716 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519405
rs1057519405
2 1.000 0.160 6 33440735 frameshift variant C/- delins 0.700 0