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rs515726201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs515726201(-;-)
Make rs515726201(-;T)
Make rs515726201(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102208224
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726201
ebirs515726201
HLIrs515726201
Exacrs515726201
Varsomers515726201
Maprs515726201
PheGenIrs515726201
hapmaprs515726201
1000 genomesrs515726201
hgdprs515726201
ensemblrs515726201
gopubmedrs515726201
geneviewrs515726201
scholarrs515726201
googlers515726201
pharmgkbrs515726201
gwascentralrs515726201
openSNPrs515726201
23andMers515726201
23andMe allrs515726201
SNP Nexus

SNPshotrs515726201
SNPdbers515726201
MSV3drs515726201
GWAS Ctlgrs515726201
Max Magnitude0
ClinVar
Risk rs515726201(T;T)
Alt rs515726201(T;T)
Reference rs515726201(;)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 RRM2B-related mitochondrial disease
Variation info
Gene RRM2B
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 RRM2B-related mitochondrial disease
Reversed 0
HGVS NC_000008.10:g.103220452dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023386.5, RCV000119015.2,