rs121918309

Orientation

minus

Stabilized

minus

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

Make rs121918309(G;T)

Make rs121918309(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

102214136

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs121918309
dbSNP (classic)	rs121918309
ClinGen	rs121918309
ebi	rs121918309
HLI	rs121918309
Exac	rs121918309
Gnomad	rs121918309
Varsome	rs121918309
LitVar	rs121918309
Map	rs121918309
PheGenI	rs121918309
Biobank	rs121918309
1000 genomes	rs121918309
hgdp	rs121918309
ensembl	rs121918309
geneview	rs121918309
scholar	rs121918309
google	rs121918309
pharmgkb	rs121918309
gwascentral	rs121918309
openSNP	rs121918309
23andMe	rs121918309
SNPshot	rs121918309
SNPdbe	rs121918309
MSV3d	rs121918309
GWAS Ctlg	rs121918309

Max Magnitude

0

OMIM	604712
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918309(T;T)
Alt	rs121918309(T;T)
Reference	Rs121918309(G;G)
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.103226364C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005721.2, RCV000119007.2,