Have questions? Visit https://www.reddit.com/r/SNPedia

rs376103091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376103091(A;A)
Make rs376103091(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23544677
GeneEARS2
is asnp
is mentioned by
dbSNPrs376103091
ebirs376103091
HLIrs376103091
Exacrs376103091
Varsomers376103091
Maprs376103091
PheGenIrs376103091
hapmaprs376103091
1000 genomesrs376103091
hgdprs376103091
ensemblrs376103091
gopubmedrs376103091
geneviewrs376103091
scholarrs376103091
googlers376103091
pharmgkbrs376103091
gwascentralrs376103091
openSNPrs376103091
23andMers376103091
23andMe allrs376103091
SNP Nexus

SNPshotrs376103091
SNPdbers376103091
MSV3drs376103091
GWAS Ctlgrs376103091
Max Magnitude0
ClinVar
Risk rs376103091(A;A)
Alt rs376103091(A;A)
Reference rs376103091(G;G)
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.23555998G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033009.3,