rs121918046

Orientation

minus

Stabilized

minus

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

Make rs121918046(C;T)

Make rs121918046(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89325520

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918046
dbSNP (classic)	rs121918046
ClinGen	rs121918046
ebi	rs121918046
HLI	rs121918046
Exac	rs121918046
Gnomad	rs121918046
Varsome	rs121918046
LitVar	rs121918046
Map	rs121918046
PheGenI	rs121918046
Biobank	rs121918046
1000 genomes	rs121918046
hgdp	rs121918046
ensembl	rs121918046
geneview	rs121918046
scholar	rs121918046
google	rs121918046
pharmgkb	rs121918046
gwascentral	rs121918046
openSNP	rs121918046
23andMe	rs121918046
SNPshot	rs121918046
SNPdbe	rs121918046
MSV3d	rs121918046
GWAS Ctlg	rs121918046

Max Magnitude

0

OMIM	174763
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918046(T;T)
Alt	rs121918046(T;T)
Reference	Rs121918046(C;C)
Significance	Pathogenic
Disease	Sensory ataxic neuropathy
Variation	info
Gene	POLG
CLNDBN	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Reversed	1
HGVS	NC_000015.9:g.89868751G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014446.17,