rs515726185

Orientation

plus

Stabilized

plus

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

Make rs515726185(G;G)

Make rs515726185(G;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

102225020

Gene

RRM2B

is a	snp
is	mentioned by
dbSNP	rs515726185
dbSNP (classic)	rs515726185
ClinGen	rs515726185
ebi	rs515726185
HLI	rs515726185
Exac	rs515726185
Gnomad	rs515726185
Varsome	rs515726185
LitVar	rs515726185
Map	rs515726185
PheGenI	rs515726185
Biobank	rs515726185
1000 genomes	rs515726185
hgdp	rs515726185
ensembl	rs515726185
geneview	rs515726185
scholar	rs515726185
google	rs515726185
pharmgkb	rs515726185
gwascentral	rs515726185
openSNP	rs515726185
23andMe	rs515726185
SNPshot	rs515726185
SNPdbe	rs515726185
MSV3d	rs515726185
GWAS Ctlg	rs515726185

Max Magnitude

0

ClinVar
Risk	rs515726185(C;C) rs515726185(G;G)
Alt	rs515726185(C;C) rs515726185(G;G)
Reference	Rs515726185(T;T)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome RRM2B-related mitochondrial disease
Variation	info
Gene	RRM2B
CLNDBN	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy RRM2B-related mitochondrial disease
Reversed	0
HGVS	NC_000008.10:g.103237248T>C; NC_000008.10:g.103237248T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005718.3, RCV000118990.2, RCV000118989.2,