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rs515726190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726190(C;C)
Make rs515726190(C;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102218942
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726190
dbSNP (classic)rs515726190
ClinGenrs515726190
ebirs515726190
HLIrs515726190
Exacrs515726190
Gnomadrs515726190
Varsomers515726190
LitVarrs515726190
Maprs515726190
PheGenIrs515726190
Biobankrs515726190
1000 genomesrs515726190
hgdprs515726190
ensemblrs515726190
geneviewrs515726190
scholarrs515726190
googlers515726190
pharmgkbrs515726190
gwascentralrs515726190
openSNPrs515726190
23andMers515726190
SNPshotrs515726190
SNPdbers515726190
MSV3drs515726190
GWAS Ctlgrs515726190
Max Magnitude0
ClinVar
Risk rs515726190(C;C)
Alt rs515726190(C;C)
Reference Rs515726190(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.103231170T>C
CLNSRC ClinVar
CLNACC RCV000118998.2,