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rs515726197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726197(-;-)
Make rs515726197(-;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102208269
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726197
dbSNP (classic)rs515726197
ClinGenrs515726197
ebirs515726197
HLIrs515726197
Exacrs515726197
Gnomadrs515726197
Varsomers515726197
LitVarrs515726197
Maprs515726197
PheGenIrs515726197
Biobankrs515726197
1000 genomesrs515726197
hgdprs515726197
ensemblrs515726197
geneviewrs515726197
scholarrs515726197
googlers515726197
pharmgkbrs515726197
gwascentralrs515726197
openSNPrs515726197
23andMers515726197
SNPshotrs515726197
SNPdbers515726197
MSV3drs515726197
GWAS Ctlgrs515726197
Max Magnitude0
ClinVar
Risk rs515726197(-;-)
Alt rs515726197(-;-)
Reference Rs515726197(T;T)
Significance Pathogenic
Disease RRM2B-related mitochondrial disease
Variation info
Gene RRM2B
CLNDBN RRM2B-related mitochondrial disease
Reversed 0
HGVS NC_000008.10:g.103220497delT
CLNSRC ClinVar
CLNACC RCV000119011.2,