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rs515726192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726192(C;T)
Make rs515726192(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102218915
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726192
dbSNP (classic)rs515726192
ClinGenrs515726192
ebirs515726192
HLIrs515726192
Exacrs515726192
Gnomadrs515726192
Varsomers515726192
LitVarrs515726192
Maprs515726192
PheGenIrs515726192
Biobankrs515726192
1000 genomesrs515726192
hgdprs515726192
ensemblrs515726192
geneviewrs515726192
scholarrs515726192
googlers515726192
pharmgkbrs515726192
gwascentralrs515726192
openSNPrs515726192
23andMers515726192
SNPshotrs515726192
SNPdbers515726192
MSV3drs515726192
GWAS Ctlgrs515726192
Max Magnitude0
ClinVar
Risk rs515726192(T;T)
Alt rs515726192(T;T)
Reference Rs515726192(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.103231143C>T
CLNSRC ClinVar
CLNACC RCV000119001.2,