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rs397514610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514610(A;G)
Make rs397514610(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position5369001
GeneFARS2
is asnp
is mentioned by
dbSNPrs397514610
ebirs397514610
HLIrs397514610
Exacrs397514610
Varsomers397514610
Maprs397514610
PheGenIrs397514610
hapmaprs397514610
1000 genomesrs397514610
hgdprs397514610
ensemblrs397514610
gopubmedrs397514610
geneviewrs397514610
scholarrs397514610
googlers397514610
pharmgkbrs397514610
gwascentralrs397514610
openSNPrs397514610
23andMers397514610
23andMe allrs397514610
SNP Nexus

SNPshotrs397514610
SNPdbers397514610
MSV3drs397514610
GWAS Ctlgrs397514610
Max Magnitude0
ClinVar
Risk rs397514610(G;G)
Alt rs397514610(G;G)
Reference rs397514610(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 14 Global developmental delay Mitochondrial encephalomyopathy
Variation info
Gene FARS2
CLNDBN Combined oxidative phosphorylation deficiency 14 Global developmental delay Mitochondrial encephalomyopathy
Reversed 0
HGVS NC_000006.11:g.5369234A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033044.2, RCV000162158.1,