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

rs121918308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918308(A;A)
Make rs121918308(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position102218918
GeneRRM2B
is asnp
is mentioned by
dbSNPrs121918308
ebirs121918308
HLIrs121918308
Exacrs121918308
Varsomers121918308
Maprs121918308
PheGenIrs121918308
hapmaprs121918308
1000 genomesrs121918308
hgdprs121918308
ensemblrs121918308
gopubmedrs121918308
geneviewrs121918308
scholarrs121918308
googlers121918308
pharmgkbrs121918308
gwascentralrs121918308
openSNPrs121918308
23andMers121918308
23andMe allrs121918308
SNP Nexus

SNPshotrs121918308
SNPdbers121918308
MSV3drs121918308
GWAS Ctlgrs121918308
Max Magnitude0
OMIM604712
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918308(A,C;A,C)
Alt rs121918308(A,C;A,C)
Reference rs121918308(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.103231146C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005719.3, RCV000118999.2,