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rs199474828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs199474828(-;-)
Make rs199474828(-;AT)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position8042
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs199474828
ebirs199474828
HLIrs199474828
Exacrs199474828
Varsomers199474828
Maprs199474828
PheGenIrs199474828
hapmaprs199474828
1000 genomesrs199474828
hgdprs199474828
ensemblrs199474828
gopubmedrs199474828
geneviewrs199474828
scholarrs199474828
googlers199474828
pharmgkbrs199474828
gwascentralrs199474828
openSNPrs199474828
23andMers199474828
23andMe allrs199474828
SNP Nexus

SNPshotrs199474828
SNPdbers199474828
MSV3drs199474828
GWAS Ctlgrs199474828
Max Magnitude0
ClinVar
Risk rs199474828(;)
Alt rs199474828(;)
Reference rs199474828(AT;AT)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX2
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_012920.1:m.8042_8043delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010297.4,