rs144500145

Orientation

plus

Stabilized

plus

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

Make rs144500145(A;A)

Make rs144500145(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

89321780

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs144500145
dbSNP (classic)	rs144500145
ClinGen	rs144500145
ebi	rs144500145
HLI	rs144500145
Exac	rs144500145
Gnomad	rs144500145
Varsome	rs144500145
LitVar	rs144500145
Map	rs144500145
PheGenI	rs144500145
Biobank	rs144500145
1000 genomes	rs144500145
hgdp	rs144500145
ensembl	rs144500145
geneview	rs144500145
scholar	rs144500145
google	rs144500145
pharmgkb	rs144500145
gwascentral	rs144500145
openSNP	rs144500145
23andMe	rs144500145
SNPshot	rs144500145
SNPdbe	rs144500145
MSV3d	rs144500145
GWAS Ctlg	rs144500145

Max Magnitude

0

ClinVar
Risk	rs144500145(A;A)
Alt	rs144500145(A;A)
Reference	Rs144500145(G;G)
Significance	Pathogenic
Disease	not provided Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy
Variation	info
Gene	POLG
CLNDBN	not provided Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Reversed	0
HGVS	NC_000015.9:g.89865011G>A
CLNSRC
CLNACC	RCV000188581.4, RCV000196524.1,