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rs387906962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906962(C;G)
Make rs387906962(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position131462820
GeneMRPL3
is asnp
is mentioned by
dbSNPrs387906962
ebirs387906962
HLIrs387906962
Exacrs387906962
Varsomers387906962
Maprs387906962
PheGenIrs387906962
hapmaprs387906962
1000 genomesrs387906962
hgdprs387906962
ensemblrs387906962
gopubmedrs387906962
geneviewrs387906962
scholarrs387906962
googlers387906962
pharmgkbrs387906962
gwascentralrs387906962
openSNPrs387906962
23andMers387906962
23andMe allrs387906962
SNP Nexus

SNPshotrs387906962
SNPdbers387906962
MSV3drs387906962
GWAS Ctlgrs387906962
Max Magnitude0
ClinVar
Risk rs387906962(G;G)
Alt rs387906962(G;G)
Reference rs387906962(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 9
Variation info
Gene MRPL3
CLNDBN Combined oxidative phosphorylation deficiency 9
Reversed 1
HGVS NC_000003.11:g.131181664G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023618.2,