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rs515726184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs515726184(-;-)
Make rs515726184(-;CTC)
ReferenceGRCh38 38.1/142
Chromosome8
Position102225984
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726184
dbSNP (classic)rs515726184
ClinGenrs515726184
ebirs515726184
HLIrs515726184
Exacrs515726184
Gnomadrs515726184
Varsomers515726184
LitVarrs515726184
Maprs515726184
PheGenIrs515726184
Biobankrs515726184
1000 genomesrs515726184
hgdprs515726184
ensemblrs515726184
geneviewrs515726184
scholarrs515726184
googlers515726184
pharmgkbrs515726184
gwascentralrs515726184
openSNPrs515726184
23andMers515726184
SNPshotrs515726184
SNPdbers515726184
MSV3drs515726184
GWAS Ctlgrs515726184
Max Magnitude0
ClinVar
Risk rs515726184(-;-)
Alt rs515726184(-;-)
Reference Rs515726184(CTC;CTC)
Significance Pathogenic
Disease RRM2B-related mitochondrial disease Camptocormism not provided
Variation info
Gene RRM2B
CLNDBN RRM2B-related mitochondrial disease Camptocormism not provided
Reversed 0
HGVS NC_000008.10:g.103238212_103238214delCTC
CLNSRC ClinVar
CLNACC RCV000118988.2, RCV000186558.1, RCV000413797.1,