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rs794726869

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726869(C;T)
Make rs794726869(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position197705955
GeneMARS2
is asnp
is mentioned by
dbSNPrs794726869
ebirs794726869
HLIrs794726869
Exacrs794726869
Varsomers794726869
Maprs794726869
PheGenIrs794726869
hapmaprs794726869
1000 genomesrs794726869
hgdprs794726869
ensemblrs794726869
gopubmedrs794726869
geneviewrs794726869
scholarrs794726869
googlers794726869
pharmgkbrs794726869
gwascentralrs794726869
openSNPrs794726869
23andMers794726869
23andMe allrs794726869
SNP Nexus

SNPshotrs794726869
SNPdbers794726869
MSV3drs794726869
GWAS Ctlgrs794726869
Max Magnitude0
ClinVar
Risk rs794726869(T;T)
Alt rs794726869(T;T)
Reference rs794726869(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 25
Variation info
Gene MARS2
CLNDBN Combined oxidative phosphorylation deficiency 25
Reversed 0
HGVS NC_000002.11:g.198570679C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000173045.2,