Gene: CCDC114 ×
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: rs147718607
rs147718607
CCDC114
3 0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04 0.700 1.000 2 2013 2013