rs121918308

Orientation

minus

Stabilized

minus

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

Make rs121918308(A;A)

Make rs121918308(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

102218918

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs121918308
dbSNP (classic)	rs121918308
ClinGen	rs121918308
ebi	rs121918308
HLI	rs121918308
Exac	rs121918308
Gnomad	rs121918308
Varsome	rs121918308
LitVar	rs121918308
Map	rs121918308
PheGenI	rs121918308
Biobank	rs121918308
1000 genomes	rs121918308
hgdp	rs121918308
ensembl	rs121918308
geneview	rs121918308
scholar	rs121918308
google	rs121918308
pharmgkb	rs121918308
gwascentral	rs121918308
openSNP	rs121918308
23andMe	rs121918308
SNPshot	rs121918308
SNPdbe	rs121918308
MSV3d	rs121918308
GWAS Ctlg	rs121918308

Max Magnitude

0

OMIM	604712
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918308(A;A) rs121918308(C;C)
Alt	rs121918308(A;A) rs121918308(C;C)
Reference	Rs121918308(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.103231146C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005719.3, RCV000118999.2,