Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514611(C;C)
Make rs397514611(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position5545261
GeneFARS2
is asnp
is mentioned by
dbSNPrs397514611
ebirs397514611
HLIrs397514611
Exacrs397514611
Varsomers397514611
Maprs397514611
PheGenIrs397514611
hapmaprs397514611
1000 genomesrs397514611
hgdprs397514611
ensemblrs397514611
gopubmedrs397514611
geneviewrs397514611
scholarrs397514611
googlers397514611
pharmgkbrs397514611
gwascentralrs397514611
openSNPrs397514611
23andMers397514611
23andMe allrs397514611
SNP Nexus

SNPshotrs397514611
SNPdbers397514611
MSV3drs397514611
GWAS Ctlgrs397514611
Max Magnitude0
ClinVar
Risk rs397514611(C;C)
Alt rs397514611(C;C)
Reference rs397514611(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 14
Variation info
Gene FARS2
CLNDBN Combined oxidative phosphorylation deficiency 14
Reversed 0
HGVS NC_000006.11:g.5545494T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033045.3,