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rs397514593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514593(A;A)
Make rs397514593(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23552158
GeneEARS2
is asnp
is mentioned by
dbSNPrs397514593
ebirs397514593
HLIrs397514593
Exacrs397514593
Varsomers397514593
Maprs397514593
PheGenIrs397514593
hapmaprs397514593
1000 genomesrs397514593
hgdprs397514593
ensemblrs397514593
gopubmedrs397514593
geneviewrs397514593
scholarrs397514593
googlers397514593
pharmgkbrs397514593
gwascentralrs397514593
openSNPrs397514593
23andMers397514593
23andMe allrs397514593
SNP Nexus

SNPshotrs397514593
SNPdbers397514593
MSV3drs397514593
GWAS Ctlgrs397514593
Max Magnitude0
ClinVar
Risk rs397514593(A,C;A,C)
Alt rs397514593(A,C;A,C)
Reference rs397514593(G;G)
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.23563479C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033013.4,