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rs201842633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201842633(C;T)
Make rs201842633(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position23544671
GeneEARS2
is asnp
is mentioned by
dbSNPrs201842633
ebirs201842633
HLIrs201842633
Exacrs201842633
Varsomers201842633
Maprs201842633
PheGenIrs201842633
hapmaprs201842633
1000 genomesrs201842633
hgdprs201842633
ensemblrs201842633
gopubmedrs201842633
geneviewrs201842633
scholarrs201842633
googlers201842633
pharmgkbrs201842633
gwascentralrs201842633
openSNPrs201842633
23andMers201842633
23andMe allrs201842633
SNP Nexus

SNPshotrs201842633
SNPdbers201842633
MSV3drs201842633
GWAS Ctlgrs201842633
Max Magnitude0
ClinVar
Risk rs201842633(T;T)
Alt rs201842633(T;T)
Reference rs201842633(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 12
Variation info
Gene EARS2
CLNDBN Combined oxidative phosphorylation deficiency 12
Reversed 0
HGVS NC_000016.9:g.23555992C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033011.4,