rs387906891

Orientation

minus

Stabilized

minus

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

Make rs387906891(A;A)

Make rs387906891(A;G)

Reference

GRCh38 38.1/142

Chromosome

8

Position

102212862

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs387906891
dbSNP (classic)	rs387906891
ClinGen	rs387906891
ebi	rs387906891
HLI	rs387906891
Exac	rs387906891
Gnomad	rs387906891
Varsome	rs387906891
LitVar	rs387906891
Map	rs387906891
PheGenI	rs387906891
Biobank	rs387906891
1000 genomes	rs387906891
hgdp	rs387906891
ensembl	rs387906891
geneview	rs387906891
scholar	rs387906891
google	rs387906891
pharmgkb	rs387906891
gwascentral	rs387906891
openSNP	rs387906891
23andMe	rs387906891
SNPshot	rs387906891
SNPdbe	rs387906891
MSV3d	rs387906891
GWAS Ctlg	rs387906891

Max Magnitude

0

ClinVar
Risk	rs387906891(A;A)
Alt	rs387906891(A;A)
Reference	Rs387906891(G;G)
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.103225090C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023388.3, RCV000119008.2,