rs121918048

Orientation

minus

Stabilized

minus

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

Make rs121918048(C;T)

Make rs121918048(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89320953

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918048
dbSNP (classic)	rs121918048
ClinGen	rs121918048
ebi	rs121918048
HLI	rs121918048
Exac	rs121918048
Gnomad	rs121918048
Varsome	rs121918048
LitVar	rs121918048
Map	rs121918048
PheGenI	rs121918048
Biobank	rs121918048
1000 genomes	rs121918048
hgdp	rs121918048
ensembl	rs121918048
geneview	rs121918048
scholar	rs121918048
google	rs121918048
pharmgkb	rs121918048
gwascentral	rs121918048
openSNP	rs121918048
23andMe	rs121918048
SNPshot	rs121918048
SNPdbe	rs121918048
MSV3d	rs121918048
GWAS Ctlg	rs121918048

Max Magnitude

0

OMIM	174763
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918048(T;T)
Alt	rs121918048(T;T)
Reference	Rs121918048(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.89864184G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014454.26,