rs121918311

Orientation

minus

Stabilized

minus

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

Make rs121918311(G;T)

Make rs121918311(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

102214157

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs121918311
dbSNP (classic)	rs121918311
ClinGen	rs121918311
ebi	rs121918311
HLI	rs121918311
Exac	rs121918311
Gnomad	rs121918311
Varsome	rs121918311
LitVar	rs121918311
Map	rs121918311
PheGenI	rs121918311
Biobank	rs121918311
1000 genomes	rs121918311
hgdp	rs121918311
ensembl	rs121918311
geneview	rs121918311
scholar	rs121918311
google	rs121918311
pharmgkb	rs121918311
gwascentral	rs121918311
openSNP	rs121918311
23andMe	rs121918311
SNPshot	rs121918311
SNPdbe	rs121918311
MSV3d	rs121918311
GWAS Ctlg	rs121918311

Max Magnitude

0

OMIM	604712
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918311(T;T)
Alt	rs121918311(T;T)
Reference	Rs121918311(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.103226385C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005723.3, RCV000119005.2,