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rs515726194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs515726194(A;T)
Make rs515726194(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102218892
GeneRRM2B
is asnp
is mentioned by
dbSNPrs515726194
ebirs515726194
HLIrs515726194
Exacrs515726194
Varsomers515726194
Maprs515726194
PheGenIrs515726194
hapmaprs515726194
1000 genomesrs515726194
hgdprs515726194
ensemblrs515726194
gopubmedrs515726194
geneviewrs515726194
scholarrs515726194
googlers515726194
pharmgkbrs515726194
gwascentralrs515726194
openSNPrs515726194
23andMers515726194
23andMe allrs515726194
SNP Nexus

SNPshotrs515726194
SNPdbers515726194
MSV3drs515726194
GWAS Ctlgrs515726194
Max Magnitude0
ClinVar
Risk rs515726194(G,T;G,T)
Alt rs515726194(G,T;G,T)
Reference rs515726194(A;A)
Significance Pathogenic
Disease Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Variation info
Gene RRM2B
CLNDBN Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Reversed 0
HGVS NC_000008.10:g.103231120A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023387.3, RCV000119003.2,