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rs200273673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200273673(C;T)
Make rs200273673(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102232231
GeneRRM2B
is asnp
is mentioned by
dbSNPrs200273673
ebirs200273673
HLIrs200273673
Exacrs200273673
Varsomers200273673
Maprs200273673
PheGenIrs200273673
hapmaprs200273673
1000 genomesrs200273673
hgdprs200273673
ensemblrs200273673
gopubmedrs200273673
geneviewrs200273673
scholarrs200273673
googlers200273673
pharmgkbrs200273673
gwascentralrs200273673
openSNPrs200273673
23andMers200273673
23andMe allrs200273673
SNP Nexus

SNPshotrs200273673
SNPdbers200273673
MSV3drs200273673
GWAS Ctlgrs200273673
Max Magnitude0
ClinVar
Risk rs200273673(G,T;G,T)
Alt rs200273673(G,T;G,T)
Reference rs200273673(C;C)
Significance Pathogenic
Disease RRM2B-related mitochondrial disease
Variation info
Gene RRM2B
CLNDBN RRM2B-related mitochondrial disease
Reversed 0
HGVS NC_000008.10:g.103244459C>G; NC_000008.10:g.103244459C>T
CLNSRC ClinVar
CLNACC RCV000118985.2, RCV000118984.2,