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rs515726185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726185(G;G)
Make rs515726185(G;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102225020
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726185
ebirs515726185
HLIrs515726185
Exacrs515726185
Varsomers515726185
Maprs515726185
PheGenIrs515726185
hapmaprs515726185
1000 genomesrs515726185
hgdprs515726185
ensemblrs515726185
gopubmedrs515726185
geneviewrs515726185
scholarrs515726185
googlers515726185
pharmgkbrs515726185
gwascentralrs515726185
openSNPrs515726185
23andMers515726185
23andMe allrs515726185
SNP Nexus

SNPshotrs515726185
SNPdbers515726185
MSV3drs515726185
GWAS Ctlgrs515726185
Max Magnitude0
ClinVar
Risk rs515726185(C,G;C,G)
Alt rs515726185(C,G;C,G)
Reference rs515726185(T;T)
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 0
HGVS NC_000008.10:g.103237248T>C; NC_000008.10:g.103237248T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005718.3, RCV000118990.2, RCV000118989.2,