Gene: CCDC65 ×
Source: CLINVAR ×
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: rs863223325
rs863223325
CCDC65
3 0.925 0.160 12 48918751 frameshift variant AT/- delins 0.700 1.000 3 2013 2015