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rs119478059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119478059(A;A)
Make rs119478059(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position139350183
GeneMRPS22
is asnp
is mentioned by
dbSNPrs119478059
ebirs119478059
HLIrs119478059
Exacrs119478059
Varsomers119478059
Maprs119478059
PheGenIrs119478059
hapmaprs119478059
1000 genomesrs119478059
hgdprs119478059
ensemblrs119478059
gopubmedrs119478059
geneviewrs119478059
scholarrs119478059
googlers119478059
pharmgkbrs119478059
gwascentralrs119478059
openSNPrs119478059
23andMers119478059
23andMe allrs119478059
SNP Nexus

SNPshotrs119478059
SNPdbers119478059
MSV3drs119478059
GWAS Ctlgrs119478059
Max Magnitude0
OMIM605810
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119478059(A;A)
Alt rs119478059(A;A)
Reference rs119478059(G;G)
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.139069025G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005019.2,