Gene: CEP295NL ×
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: rs4789939
rs4789939
TIMP2 ; CEP295NL
2 0.925 0.120 17 78885621 intron variant T/A;C snv 0.700 1.000 1 2011 2011