rs2290707

Orientation

minus

Stabilized

minus

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

Make rs2290707(G;T)

Make rs2290707(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

102239027

Gene	RRM2B, UBR5-AS1

is a	snp
is	mentioned by
dbSNP	rs2290707
dbSNP (classic)	rs2290707
ClinGen	rs2290707
ebi	rs2290707
HLI	rs2290707
Exac	rs2290707
Gnomad	rs2290707
Varsome	rs2290707
LitVar	rs2290707
Map	rs2290707
PheGenI	rs2290707
Biobank	rs2290707
1000 genomes	rs2290707
hgdp	rs2290707
ensembl	rs2290707
geneview	rs2290707
scholar	rs2290707
google	rs2290707
pharmgkb	rs2290707
gwascentral	rs2290707
openSNP	rs2290707
23andMe	rs2290707
SNPshot	rs2290707
SNPdbe	rs2290707
MSV3d	rs2290707
GWAS Ctlg	rs2290707

Max Magnitude

0

[PMID 24861915] Investigation of the association of hRRM1 and p53R2 gene polymorphisms in head and neck squamous cell carcinomas

ClinVar
Risk	rs2290707(T;T)
Alt	rs2290707(T;T)
Reference	Rs2290707(G;G)
Significance	Non-pathogenic
Disease	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Mitochondrial DNA depletion syndrome
Variation	info
Gene	RRM2B LOC101927221 UBR5-AS1
CLNDBN	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Mitochondrial DNA depletion syndrome
Reversed	1
HGVS	NC_000008.10:g.103251255C>A
CLNSRC
CLNACC	RCV000283694.1, RCV000348081.1,