Gene: ITPKC ×
Source: INFERRED ×
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: rs28493229
rs28493229
COQ8B ; ITPKC
2 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.890 0.900 1 2010 2018