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rs515726191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726191(C;C)
Make rs515726191(C;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102218917
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726191
dbSNP (classic)rs515726191
ClinGenrs515726191
ebirs515726191
HLIrs515726191
Exacrs515726191
Gnomadrs515726191
Varsomers515726191
LitVarrs515726191
Maprs515726191
PheGenIrs515726191
Biobankrs515726191
1000 genomesrs515726191
hgdprs515726191
ensemblrs515726191
geneviewrs515726191
scholarrs515726191
googlers515726191
pharmgkbrs515726191
gwascentralrs515726191
openSNPrs515726191
23andMers515726191
SNPshotrs515726191
SNPdbers515726191
MSV3drs515726191
GWAS Ctlgrs515726191
Max Magnitude0
ClinVar
Risk rs515726191(C;C)
Alt rs515726191(C;C)
Reference Rs515726191(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.103231145T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000119000.2,