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: rs606231259
rs606231259
CPLANE1
2 0.925 0.080 5 37244452 frameshift variant T/- del 7.0E-05 0.700 1.000 4 2014 2017
dbSNP: rs756856188
rs756856188
CPLANE1
2 0.925 0.080 5 37244521 missense variant C/T snv 1.2E-04 1.4E-04 0.700 1.000 1 2015 2015
dbSNP: rs777686211
rs777686211
CPLANE1
5 0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04 0.700 1.000 2 2015 2017
dbSNP: rs374144275
rs374144275
CPLANE1
2 0.925 0.080 5 37120306 stop gained G/A snv 3.1E-05 1.9E-04 0.700 1.000 1 2015 2015