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rs587777839

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777839(C;C)
Make rs587777839(C;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position7629836
GenePET100, XAB2
is asnp
is mentioned by
dbSNPrs587777839
ebirs587777839
HLIrs587777839
Exacrs587777839
Varsomers587777839
Maprs587777839
PheGenIrs587777839
hapmaprs587777839
1000 genomesrs587777839
hgdprs587777839
ensemblrs587777839
gopubmedrs587777839
geneviewrs587777839
scholarrs587777839
googlers587777839
pharmgkbrs587777839
gwascentralrs587777839
openSNPrs587777839
23andMers587777839
23andMe allrs587777839
SNP Nexus

SNPshotrs587777839
SNPdbers587777839
MSV3drs587777839
GWAS Ctlgrs587777839
Max Magnitude0
ClinVar
Risk rs587777839(C;C)
Alt rs587777839(C;C)
Reference rs587777839(G;G)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene PET100 XAB2
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000019.9:g.7694722G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000111466.3,