Gene: ITPKC ×
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: rs28493229
rs28493229
COQ8B ; ITPKC
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.890 0.900 10 2010 2018
dbSNP: rs2290692
rs2290692
ITPKC ; C19orf54
1 1.000 0.120 19 40740473 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7251246
rs7251246
ITPKC
1 1.000 0.120 19 40721201 intron variant C/T snv 0.45 0.010 1.000 1 2014 2014