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rs397514595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514595(A;G)
Make rs397514595(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23552251
GeneEARS2
is asnp
is mentioned by
dbSNPrs397514595
ebirs397514595
HLIrs397514595
Exacrs397514595
Varsomers397514595
Maprs397514595
PheGenIrs397514595
hapmaprs397514595
1000 genomesrs397514595
hgdprs397514595
ensemblrs397514595
gopubmedrs397514595
geneviewrs397514595
scholarrs397514595
googlers397514595
pharmgkbrs397514595
gwascentralrs397514595
openSNPrs397514595
23andMers397514595
23andMe allrs397514595
SNP Nexus

SNPshotrs397514595
SNPdbers397514595
MSV3drs397514595
GWAS Ctlgrs397514595
Max Magnitude0
ClinVar
Risk rs397514595(G;G)
Alt rs397514595(G;G)
Reference rs397514595(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.23563572T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033015.6,