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rs515726193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726193(-;-)
Make rs515726193(-;C)
ReferenceGRCh38 38.1/142
Chromosome8
Position102218914
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726193
dbSNP (classic)rs515726193
ClinGenrs515726193
ebirs515726193
HLIrs515726193
Exacrs515726193
Gnomadrs515726193
Varsomers515726193
LitVarrs515726193
Maprs515726193
PheGenIrs515726193
Biobankrs515726193
1000 genomesrs515726193
hgdprs515726193
ensemblrs515726193
geneviewrs515726193
scholarrs515726193
googlers515726193
pharmgkbrs515726193
gwascentralrs515726193
openSNPrs515726193
23andMers515726193
SNPshotrs515726193
SNPdbers515726193
MSV3drs515726193
GWAS Ctlgrs515726193
Max Magnitude0
ClinVar
Risk rs515726193(-;-)
Alt rs515726193(-;-)
Reference Rs515726193(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.103231142delC
CLNSRC ClinVar
CLNACC RCV000119002.2,