rs121918307

Orientation

minus

Stabilized

minus

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

Make rs121918307(C;T)

Make rs121918307(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

102212829

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs121918307
dbSNP (classic)	rs121918307
ClinGen	rs121918307
ebi	rs121918307
HLI	rs121918307
Exac	rs121918307
Gnomad	rs121918307
Varsome	rs121918307
LitVar	rs121918307
Map	rs121918307
PheGenI	rs121918307
Biobank	rs121918307
1000 genomes	rs121918307
hgdp	rs121918307
ensembl	rs121918307
geneview	rs121918307
scholar	rs121918307
google	rs121918307
pharmgkb	rs121918307
gwascentral	rs121918307
openSNP	rs121918307
23andMe	rs121918307
SNPshot	rs121918307
SNPdbe	rs121918307
MSV3d	rs121918307
GWAS Ctlg	rs121918307

Max Magnitude

0

OMIM	604712
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918307(T;T)
Alt	rs121918307(T;T)
Reference	Rs121918307(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome RRM2B-related mitochondrial disease
Variation	info
Gene	RRM2B
CLNDBN	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy RRM2B-related mitochondrial disease
Reversed	1
HGVS	NC_000008.10:g.103225057G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005717.2, RCV000119010.2,