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rs387906924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906924(C;C)
Make rs387906924(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position139350318
GeneMRPS22
is asnp
is mentioned by
dbSNPrs387906924
ebirs387906924
HLIrs387906924
Exacrs387906924
Varsomers387906924
Maprs387906924
PheGenIrs387906924
hapmaprs387906924
1000 genomesrs387906924
hgdprs387906924
ensemblrs387906924
gopubmedrs387906924
geneviewrs387906924
scholarrs387906924
googlers387906924
pharmgkbrs387906924
gwascentralrs387906924
openSNPrs387906924
23andMers387906924
23andMe allrs387906924
SNP Nexus

SNPshotrs387906924
SNPdbers387906924
MSV3drs387906924
GWAS Ctlgrs387906924
Max Magnitude0
ClinVar
Risk rs387906924(C;C)
Alt rs387906924(C;C)
Reference rs387906924(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 5
Variation info
Gene MRPS22
CLNDBN Combined oxidative phosphorylation deficiency 5
Reversed 0
HGVS NC_000003.11:g.139069160T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023481.2,