rs121918045

Orientation

minus

Stabilized

minus

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

Make rs121918045(C;C)

Make rs121918045(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89333747

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918045
dbSNP (classic)	rs121918045
ClinGen	rs121918045
ebi	rs121918045
HLI	rs121918045
Exac	rs121918045
Gnomad	rs121918045
Varsome	rs121918045
LitVar	rs121918045
Map	rs121918045
PheGenI	rs121918045
Biobank	rs121918045
1000 genomes	rs121918045
hgdp	rs121918045
ensembl	rs121918045
geneview	rs121918045
scholar	rs121918045
google	rs121918045
pharmgkb	rs121918045
gwascentral	rs121918045
openSNP	rs121918045
23andMe	rs121918045
SNPshot	rs121918045
SNPdbe	rs121918045
MSV3d	rs121918045
GWAS Ctlg	rs121918045

Max Magnitude

0

OMIM	174763
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918045(C;C)
Alt	rs121918045(C;C)
Reference	Rs121918045(G;G)
Significance	Pathogenic
Disease	Cerebellar ataxia infantile with progressive external ophthalmoplegia
Variation	info
Gene	POLG
CLNDBN	Cerebellar ataxia infantile with progressive external ophthalmoplegia
Reversed	1
HGVS	NC_000015.9:g.89876978C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014445.28,