rs121918053

Orientation

minus

Stabilized

minus

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

Make rs121918053(C;T)

Make rs121918053(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89321777

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918053
dbSNP (classic)	rs121918053
ClinGen	rs121918053
ebi	rs121918053
HLI	rs121918053
Exac	rs121918053
Gnomad	rs121918053
Varsome	rs121918053
LitVar	rs121918053
Map	rs121918053
PheGenI	rs121918053
Biobank	rs121918053
1000 genomes	rs121918053
hgdp	rs121918053
ensembl	rs121918053
geneview	rs121918053
scholar	rs121918053
google	rs121918053
pharmgkb	rs121918053
gwascentral	rs121918053
openSNP	rs121918053
23andMe	rs121918053
SNPshot	rs121918053
SNPdbe	rs121918053
MSV3d	rs121918053
GWAS Ctlg	rs121918053

Max Magnitude

0

OMIM	174763
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121918053(T;T)
Alt	rs121918053(T;T)
Reference	Rs121918053(C;C)
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.89865008G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014466.27,