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: rs1485978447
rs1485978447
1 1.000 1 26779062 stop gained C/A;T snv 0.700 0
dbSNP: rs1553146165
rs1553146165
1 1.000 1 26697317 frameshift variant CTACCAGGGCTACCCCGGGG/- delins 0.700 0
dbSNP: rs1553153291
rs1553153291
1 1.000 1 26775086 frameshift variant -/A delins 0.700 0
dbSNP: rs1557570794
rs1557570794
15 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
dbSNP: rs1557591264
rs1557591264
1 1.000 1 26729861 stop gained C/T snv 0.700 0
dbSNP: rs1557612048
rs1557612048
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs1557620758
rs1557620758
1 1.000 1 26780032 frameshift variant AAGTG/- del 0.700 0
dbSNP: rs387906845
rs387906845
1 1.000 1 26766246 stop gained C/T snv 0.700 0
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs797045262
rs797045262
1 1.000 1 26696422 frameshift variant AGCAGCCTGGGCAACCCGCCGCCGCC/- delins 0.700 0
dbSNP: rs797045263
rs797045263
1 1.000 1 26696794 frameshift variant G/- delins 0.700 0
dbSNP: rs797045264
rs797045264
1 1.000 1 26779036 missense variant T/C snv 0.700 0