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rs121918309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918309(G;T)
Make rs121918309(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position102214136
GeneRRM2B
is asnp
is mentioned by
dbSNPrs121918309
ebirs121918309
HLIrs121918309
Exacrs121918309
Varsomers121918309
Maprs121918309
PheGenIrs121918309
hapmaprs121918309
1000 genomesrs121918309
hgdprs121918309
ensemblrs121918309
gopubmedrs121918309
geneviewrs121918309
scholarrs121918309
googlers121918309
pharmgkbrs121918309
gwascentralrs121918309
openSNPrs121918309
23andMers121918309
23andMe allrs121918309
SNP Nexus

SNPshotrs121918309
SNPdbers121918309
MSV3drs121918309
GWAS Ctlgrs121918309
Max Magnitude0
OMIM604712
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918309(T;T)
Alt rs121918309(T;T)
Reference rs121918309(G;G)
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.103226364C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005721.2, RCV000119007.2,