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rs199474827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474827(A;A)
Make rs199474827(A;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position7671
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199474827
ebirs199474827
HLIrs199474827
Exacrs199474827
Varsomers199474827
Maprs199474827
PheGenIrs199474827
hapmaprs199474827
1000 genomesrs199474827
hgdprs199474827
ensemblrs199474827
gopubmedrs199474827
geneviewrs199474827
scholarrs199474827
googlers199474827
pharmgkbrs199474827
gwascentralrs199474827
openSNPrs199474827
23andMers199474827
23andMe allrs199474827
SNP Nexus

SNPshotrs199474827
SNPdbers199474827
MSV3drs199474827
GWAS Ctlgrs199474827
Max Magnitude0
ClinVar
Risk rs199474827(A;A)
Alt rs199474827(A;A)
Reference rs199474827(T;T)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX2
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_012920.1:m.7671T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010296.2,