rs387906892

Orientation

minus

Stabilized

minus

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

Make rs387906892(C;T)

Make rs387906892(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

102232256

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs387906892
dbSNP (classic)	rs387906892
ClinGen	rs387906892
ebi	rs387906892
HLI	rs387906892
Exac	rs387906892
Gnomad	rs387906892
Varsome	rs387906892
LitVar	rs387906892
Map	rs387906892
PheGenI	rs387906892
Biobank	rs387906892
1000 genomes	rs387906892
hgdp	rs387906892
ensembl	rs387906892
geneview	rs387906892
scholar	rs387906892
google	rs387906892
pharmgkb	rs387906892
gwascentral	rs387906892
openSNP	rs387906892
23andMe	rs387906892
SNPshot	rs387906892
SNPdbe	rs387906892
MSV3d	rs387906892
GWAS Ctlg	rs387906892

Max Magnitude

0

ClinVar
Risk	rs387906892(T;T)
Alt	rs387906892(T;T)
Reference	Rs387906892(C;C)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Variation	info
Gene	RRM2B
CLNDBN	Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Reversed	1
HGVS	NC_000008.10:g.103244484G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023389.3, RCV000118993.2,