rs515726201

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs515726201(-;T)

Make rs515726201(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

102208224

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs515726201
dbSNP (classic)	rs515726201
ClinGen	rs515726201
ebi	rs515726201
HLI	rs515726201
Exac	rs515726201
Gnomad	rs515726201
Varsome	rs515726201
LitVar	rs515726201
Map	rs515726201
PheGenI	rs515726201
Biobank	rs515726201
1000 genomes	rs515726201
hgdp	rs515726201
ensembl	rs515726201
geneview	rs515726201
scholar	rs515726201
google	rs515726201
pharmgkb	rs515726201
gwascentral	rs515726201
openSNP	rs515726201
23andMe	rs515726201
SNPshot	rs515726201
SNPdbe	rs515726201
MSV3d	rs515726201
GWAS Ctlg	rs515726201

Max Magnitude

0

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,