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rs587779779

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779779(C;T)
Make rs587779779(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position7631476
GenePCP2, PET100, XAB2
is asnp
is mentioned by
dbSNPrs587779779
ebirs587779779
HLIrs587779779
Exacrs587779779
Varsomers587779779
Maprs587779779
PheGenIrs587779779
hapmaprs587779779
1000 genomesrs587779779
hgdprs587779779
ensemblrs587779779
gopubmedrs587779779
geneviewrs587779779
scholarrs587779779
googlers587779779
pharmgkbrs587779779
gwascentralrs587779779
openSNPrs587779779
23andMers587779779
23andMe allrs587779779
SNP Nexus

SNPshotrs587779779
SNPdbers587779779
MSV3drs587779779
GWAS Ctlgrs587779779
Max Magnitude0
ClinVar
Risk rs587779779(T;T)
Alt rs587779779(T;T)
Reference rs587779779(C;C)
Significance Pathogenic
Disease Congenital lactic acidosis Cytochrome-c oxidase deficiency
Variation info
Gene PCP2 PET100 XAB2
CLNDBN Congenital lactic acidosis Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000019.9:g.7696362C>T
CLNSRC
CLNACC RCV000144455.1,