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rs397514591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514591(A;G)
Make rs397514591(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23535344
GeneEARS2
is asnp
is mentioned by
dbSNPrs397514591
ebirs397514591
HLIrs397514591
Exacrs397514591
Varsomers397514591
Maprs397514591
PheGenIrs397514591
hapmaprs397514591
1000 genomesrs397514591
hgdprs397514591
ensemblrs397514591
gopubmedrs397514591
geneviewrs397514591
scholarrs397514591
googlers397514591
pharmgkbrs397514591
gwascentralrs397514591
openSNPrs397514591
23andMers397514591
23andMe allrs397514591
SNP Nexus

SNPshotrs397514591
SNPdbers397514591
MSV3drs397514591
GWAS Ctlgrs397514591
Max Magnitude0
ClinVar
Risk rs397514591(G;G)
Alt rs397514591(G;G)
Reference rs397514591(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 12
Variation info
Gene EARS2
CLNDBN Combined oxidative phosphorylation deficiency 12
Reversed 1
HGVS NC_000016.9:g.23546665T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033010.5,