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rs794726870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726870(C;T)
Make rs794726870(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position197705829
GeneMARS2
is asnp
is mentioned by
dbSNPrs794726870
dbSNP (classic)rs794726870
ClinGenrs794726870
ebirs794726870
HLIrs794726870
Exacrs794726870
Gnomadrs794726870
Varsomers794726870
LitVarrs794726870
Maprs794726870
PheGenIrs794726870
Biobankrs794726870
1000 genomesrs794726870
hgdprs794726870
ensemblrs794726870
geneviewrs794726870
scholarrs794726870
googlers794726870
pharmgkbrs794726870
gwascentralrs794726870
openSNPrs794726870
23andMers794726870
SNPshotrs794726870
SNPdbers794726870
MSV3drs794726870
GWAS Ctlgrs794726870
Max Magnitude0
ClinVar
Risk rs794726870(T;T)
Alt rs794726870(T;T)
Reference Rs794726870(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.198570553C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000173046.2,