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rs397514612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514612(A;T)
Make rs397514612(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position5613275
GeneFARS2
is asnp
is mentioned by
dbSNPrs397514612
ebirs397514612
HLIrs397514612
Exacrs397514612
Varsomers397514612
Maprs397514612
PheGenIrs397514612
hapmaprs397514612
1000 genomesrs397514612
hgdprs397514612
ensemblrs397514612
gopubmedrs397514612
geneviewrs397514612
scholarrs397514612
googlers397514612
pharmgkbrs397514612
gwascentralrs397514612
openSNPrs397514612
23andMers397514612
23andMe allrs397514612
SNP Nexus

SNPshotrs397514612
SNPdbers397514612
MSV3drs397514612
GWAS Ctlgrs397514612
Max Magnitude0
ClinVar
Risk rs397514612(T;T)
Alt rs397514612(T;T)
Reference rs397514612(A;A)
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.5613508A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033046.3,