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rs267607024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607024(A;A)
Make rs267607024(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position102224978
GeneRRM2B
is asnp
is mentioned by
dbSNPrs267607024
ebirs267607024
HLIrs267607024
Exacrs267607024
Varsomers267607024
Maprs267607024
PheGenIrs267607024
hapmaprs267607024
1000 genomesrs267607024
hgdprs267607024
ensemblrs267607024
gopubmedrs267607024
geneviewrs267607024
scholarrs267607024
googlers267607024
pharmgkbrs267607024
gwascentralrs267607024
openSNPrs267607024
23andMers267607024
23andMe allrs267607024
SNP Nexus

SNPshotrs267607024
SNPdbers267607024
MSV3drs267607024
GWAS Ctlgrs267607024
Max Magnitude0
ClinVar
Risk rs267607024(A;A)
Alt rs267607024(A;A)
Reference rs267607024(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B-related mitochondrial disease
Variation info
Gene RRM2B
CLNDBN Mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B-related mitochondrial disease
Reversed 1
HGVS NC_000008.10:g.103237206C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005725.3, RCV000118994.2,