rs121918310

Orientation

minus

Stabilized

minus

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

Make rs121918310(C;T)

Make rs121918310(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

102208210

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs121918310
dbSNP (classic)	rs121918310
ClinGen	rs121918310
ebi	rs121918310
HLI	rs121918310
Exac	rs121918310
Gnomad	rs121918310
Varsome	rs121918310
LitVar	rs121918310
Map	rs121918310
PheGenI	rs121918310
Biobank	rs121918310
1000 genomes	rs121918310
hgdp	rs121918310
ensembl	rs121918310
geneview	rs121918310
scholar	rs121918310
google	rs121918310
pharmgkb	rs121918310
gwascentral	rs121918310
openSNP	rs121918310
23andMe	rs121918310
SNPshot	rs121918310
SNPdbe	rs121918310
MSV3d	rs121918310
GWAS Ctlg	rs121918310

Max Magnitude

0

OMIM	604712
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918310(T;T)
Alt	rs121918310(T;T)
Reference	Rs121918310(C;C)
Significance	Pathogenic
Disease	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 RRM2B-related mitochondrial disease not provided
Variation	info
Gene	RRM2B
CLNDBN	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 RRM2B-related mitochondrial disease not provided
Reversed	1
HGVS	NC_000008.10:g.103220438G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005722.3, RCV000119016.2, RCV000197531.3,