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rs199474829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474829(A;A)
Make rs199474829(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position7896
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199474829
ebirs199474829
HLIrs199474829
Exacrs199474829
Varsomers199474829
Maprs199474829
PheGenIrs199474829
hapmaprs199474829
1000 genomesrs199474829
hgdprs199474829
ensemblrs199474829
gopubmedrs199474829
geneviewrs199474829
scholarrs199474829
googlers199474829
pharmgkbrs199474829
gwascentralrs199474829
openSNPrs199474829
23andMers199474829
23andMe allrs199474829
SNP Nexus

SNPshotrs199474829
SNPdbers199474829
MSV3drs199474829
GWAS Ctlgrs199474829
Max Magnitude0
ClinVar
Risk rs199474829(A;A)
Alt rs199474829(A;A)
Reference rs199474829(G;G)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX2
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_012920.1:m.7896G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010298.2,