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rs199474825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474825(C;C)
Make rs199474825(C;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position7587
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199474825
ebirs199474825
HLIrs199474825
Exacrs199474825
Varsomers199474825
Maprs199474825
PheGenIrs199474825
hapmaprs199474825
1000 genomesrs199474825
hgdprs199474825
ensemblrs199474825
gopubmedrs199474825
geneviewrs199474825
scholarrs199474825
googlers199474825
pharmgkbrs199474825
gwascentralrs199474825
openSNPrs199474825
23andMers199474825
23andMe allrs199474825
SNP Nexus

SNPshotrs199474825
SNPdbers199474825
MSV3drs199474825
GWAS Ctlgrs199474825
Max Magnitude0
ClinVar
Risk rs199474825(C;C)
Alt rs199474825(C;C)
Reference rs199474825(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.7587T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010294.3,