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rs121918311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918311(G;T)
Make rs121918311(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position102214157
GeneRRM2B
is asnp
is mentioned by
dbSNPrs121918311
ebirs121918311
HLIrs121918311
Exacrs121918311
Varsomers121918311
Maprs121918311
PheGenIrs121918311
hapmaprs121918311
1000 genomesrs121918311
hgdprs121918311
ensemblrs121918311
gopubmedrs121918311
geneviewrs121918311
scholarrs121918311
googlers121918311
pharmgkbrs121918311
gwascentralrs121918311
openSNPrs121918311
23andMers121918311
23andMe allrs121918311
SNP Nexus

SNPshotrs121918311
SNPdbers121918311
MSV3drs121918311
GWAS Ctlgrs121918311
Max Magnitude0
OMIM604712
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918311(T;T)
Alt rs121918311(T;T)
Reference rs121918311(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.103226385C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005723.3, RCV000119005.2,