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

rs121918307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918307(C;T)
Make rs121918307(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position102212829
GeneRRM2B
is asnp
is mentioned by
dbSNPrs121918307
ebirs121918307
HLIrs121918307
Exacrs121918307
Varsomers121918307
Maprs121918307
PheGenIrs121918307
hapmaprs121918307
1000 genomesrs121918307
hgdprs121918307
ensemblrs121918307
gopubmedrs121918307
geneviewrs121918307
scholarrs121918307
googlers121918307
pharmgkbrs121918307
gwascentralrs121918307
openSNPrs121918307
23andMers121918307
23andMe allrs121918307
SNP Nexus

SNPshotrs121918307
SNPdbers121918307
MSV3drs121918307
GWAS Ctlgrs121918307
Max Magnitude0
OMIM604712
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918307(T;T)
Alt rs121918307(T;T)
Reference rs121918307(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome RRM2B-related mitochondrial disease
Variation info
Gene RRM2B
CLNDBN Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy RRM2B-related mitochondrial disease
Reversed 1
HGVS NC_000008.10:g.103225057G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005717.2, RCV000119010.2,