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rs515726199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs515726199(-;-)
Make rs515726199(-;A)
ReferenceGRCh38 38.1/142
Chromosome8
Position102208239
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726199
ebirs515726199
HLIrs515726199
Exacrs515726199
Varsomers515726199
Maprs515726199
PheGenIrs515726199
hapmaprs515726199
1000 genomesrs515726199
hgdprs515726199
ensemblrs515726199
gopubmedrs515726199
geneviewrs515726199
scholarrs515726199
googlers515726199
pharmgkbrs515726199
gwascentralrs515726199
openSNPrs515726199
23andMers515726199
23andMe allrs515726199
SNP Nexus

SNPshotrs515726199
SNPdbers515726199
MSV3drs515726199
GWAS Ctlgrs515726199
Max Magnitude0
ClinVar
Risk rs515726199(;)
Alt rs515726199(;)
Reference rs515726199(A;A)
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.103220467delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023385.5, RCV000119013.2,