Gene: CCDC40 ×
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: rs587778819
rs587778819
CCDC40
2 1.000 0.160 17 80089876 frameshift variant -/CTGT;TGT ins 3.6E-05 0.700 0
dbSNP: rs745993158
rs745993158
CCDC40
1 1.000 0.160 17 80082059 splice donor variant G/A snv 4.0E-06 0.700 0