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rs397514592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514592(A;A)
Make rs397514592(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23535236
GeneEARS2
is asnp
is mentioned by
dbSNPrs397514592
ebirs397514592
HLIrs397514592
Exacrs397514592
Varsomers397514592
Maprs397514592
PheGenIrs397514592
hapmaprs397514592
1000 genomesrs397514592
hgdprs397514592
ensemblrs397514592
gopubmedrs397514592
geneviewrs397514592
scholarrs397514592
googlers397514592
pharmgkbrs397514592
gwascentralrs397514592
openSNPrs397514592
23andMers397514592
23andMe allrs397514592
SNP Nexus

SNPshotrs397514592
SNPdbers397514592
MSV3drs397514592
GWAS Ctlgrs397514592
Max Magnitude0
ClinVar
Risk rs397514592(A;A)
Alt rs397514592(A;A)
Reference rs397514592(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.23546557C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033012.4,