rs515726199

Orientation

plus

Stabilized

plus

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

Make rs515726199(-;-)

Make rs515726199(-;A)

Reference

GRCh38 38.1/142

Chromosome

8

Position

102208239

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs515726199
dbSNP (classic)	rs515726199
ClinGen	rs515726199
ebi	rs515726199
HLI	rs515726199
Exac	rs515726199
Gnomad	rs515726199
Varsome	rs515726199
LitVar	rs515726199
Map	rs515726199
PheGenI	rs515726199
Biobank	rs515726199
1000 genomes	rs515726199
hgdp	rs515726199
ensembl	rs515726199
geneview	rs515726199
scholar	rs515726199
google	rs515726199
pharmgkb	rs515726199
gwascentral	rs515726199
openSNP	rs515726199
23andMe	rs515726199
SNPshot	rs515726199
SNPdbe	rs515726199
MSV3d	rs515726199
GWAS Ctlg	rs515726199

Max Magnitude

0

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,