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: rs199473678
rs199473678
CTC1
1 1.000 0.280 17 8230304 missense variant T/C snv 6.9E-05 7.0E-05 0.800 1.000 4 2012 2018
dbSNP: rs199473673
rs199473673
CTC1
1 1.000 0.280 17 8237487 missense variant G/A snv 1.5E-04 1.0E-04 0.800 1.000 2 2012 2012
dbSNP: rs199473676
rs199473676
CTC1
1 1.000 0.280 17 8232427 missense variant A/C snv 2.0E-04 2.5E-04 0.800 1.000 2 2012 2012
dbSNP: rs369255297
rs369255297
CTC1
1 1.000 0.280 17 8231334 missense variant C/T snv 2.8E-05 7.0E-05 0.800 1.000 2 2012 2012
dbSNP: rs373905859
rs373905859
CTC1
1 1.000 0.280 17 8231427 missense variant G/A snv 8.0E-06 1.4E-05 0.800 1.000 2 2012 2012
dbSNP: rs387907080
rs387907080
CTC1
2 0.925 0.360 17 8237392 missense variant C/T snv 8.0E-06 0.800 1.000 2 2012 2012
dbSNP: rs202138550
rs202138550
CTC1
2 0.925 0.360 17 8229943 missense variant G/A snv 5.6E-05 4.9E-05 0.800 0
dbSNP: rs199473674
rs199473674
CTC1
2 0.925 0.360 17 8237440 frameshift variant TTCT/- delins 2.0E-04 1.7E-04 0.700 1.000 5 2012 2013
dbSNP: rs1320809462
rs1320809462
CTC1
1 1.000 0.280 17 8234859 missense variant C/G snv 4.0E-06 0.700 1.000 2 2012 2012
dbSNP: rs199473681
rs199473681
CTC1
1 1.000 0.280 17 8228591 missense variant GA/AT mnv 0.700 1.000 2 2012 2012
dbSNP: rs1567599993
rs1567599993
CTC1
1 1.000 0.280 17 8229905 frameshift variant -/G delins 0.700 0
dbSNP: rs199473675
rs199473675
CTC1
1 1.000 0.280 17 8236077 frameshift variant G/- del 2.8E-05 0.700 0
dbSNP: rs199473677
rs199473677
CTC1
3 0.882 0.360 17 8230396 frameshift variant G/-;GG delins 3.8E-04 0.700 0
dbSNP: rs199473679
rs199473679
CTC1
3 0.882 0.360 17 8229946 inframe deletion CAA/- delins 2.0E-05 1.3E-04 0.700 0
dbSNP: rs199473682
rs199473682
CTC1
1 1.000 0.280 17 8228251 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs200609323
rs200609323
CTC1
2 0.925 0.360 17 8230562 splice donor variant C/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs201455840
rs201455840
CTC1
1 1.000 0.280 17 8228592 missense variant A/G;T snv 9.2E-05 0.700 0
dbSNP: rs397514660
rs397514660
CTC1
1 1.000 0.280 17 8236276 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0