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: rs199473677
rs199473677
CTC1
3 0.882 0.360 17 8230396 frameshift variant G/-;GG delins 3.8E-04 0.700 1.000 4 2012 2015
dbSNP: rs1444923772
rs1444923772
CTC1
1 1.000 0.280 17 8235279 frameshift variant C/- delins 2.1E-05 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