rs267607025

Orientation

minus

Stabilized

minus

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

Make rs267607025(A;A)

Make rs267607025(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

102225011

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs267607025
dbSNP (classic)	rs267607025
ClinGen	rs267607025
ebi	rs267607025
HLI	rs267607025
Exac	rs267607025
Gnomad	rs267607025
Varsome	rs267607025
LitVar	rs267607025
Map	rs267607025
PheGenI	rs267607025
Biobank	rs267607025
1000 genomes	rs267607025
hgdp	rs267607025
ensembl	rs267607025
geneview	rs267607025
scholar	rs267607025
google	rs267607025
pharmgkb	rs267607025
gwascentral	rs267607025
openSNP	rs267607025
23andMe	rs267607025
SNPshot	rs267607025
SNPdbe	rs267607025
MSV3d	rs267607025
GWAS Ctlg	rs267607025

Max Magnitude

0

ClinVar
Risk	rs267607025(A;A)
Alt	rs267607025(A;A)
Reference	Rs267607025(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B-related mitochondrial disease
Variation	info
Gene	RRM2B
CLNDBN	Mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B-related mitochondrial disease
Reversed	1
HGVS	NC_000008.10:g.103237239C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005724.2, RCV000118992.2,