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rs397514594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514594(A;A)
Make rs397514594(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23535346
GeneEARS2
is asnp
is mentioned by
dbSNPrs397514594
ebirs397514594
HLIrs397514594
Exacrs397514594
Varsomers397514594
Maprs397514594
PheGenIrs397514594
hapmaprs397514594
1000 genomesrs397514594
hgdprs397514594
ensemblrs397514594
gopubmedrs397514594
geneviewrs397514594
scholarrs397514594
googlers397514594
pharmgkbrs397514594
gwascentralrs397514594
openSNPrs397514594
23andMers397514594
23andMe allrs397514594
SNP Nexus

SNPshotrs397514594
SNPdbers397514594
MSV3drs397514594
GWAS Ctlgrs397514594
Max Magnitude0
ClinVar
Risk rs397514594(A;A)
Alt rs397514594(A;A)
Reference rs397514594(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.23546667C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033014.4,