rs515726194

Orientation

plus

Stabilized

plus

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

Make rs515726194(A;T)

Make rs515726194(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

102218892

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs515726194
dbSNP (classic)	rs515726194
ClinGen	rs515726194
ebi	rs515726194
HLI	rs515726194
Exac	rs515726194
Gnomad	rs515726194
Varsome	rs515726194
LitVar	rs515726194
Map	rs515726194
PheGenI	rs515726194
Biobank	rs515726194
1000 genomes	rs515726194
hgdp	rs515726194
ensembl	rs515726194
geneview	rs515726194
scholar	rs515726194
google	rs515726194
pharmgkb	rs515726194
gwascentral	rs515726194
openSNP	rs515726194
23andMe	rs515726194
SNPshot	rs515726194
SNPdbe	rs515726194
MSV3d	rs515726194
GWAS Ctlg	rs515726194

Max Magnitude

0

ClinVar
Risk	rs515726194(G;G) rs515726194(T;T)
Alt	rs515726194(G;G) rs515726194(T;T)
Reference	Rs515726194(A;A)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Variation	info
Gene	RRM2B
CLNDBN	Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Reversed	0
HGVS	NC_000008.10:g.103231120A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023387.3, RCV000119003.2,