rs121918044

Orientation

minus

Stabilized

minus

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

Make rs121918044(G;G)

Make rs121918044(G;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89329055

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918044
dbSNP (classic)	rs121918044
ClinGen	rs121918044
ebi	rs121918044
HLI	rs121918044
Exac	rs121918044
Gnomad	rs121918044
Varsome	rs121918044
LitVar	rs121918044
Map	rs121918044
PheGenI	rs121918044
Biobank	rs121918044
1000 genomes	rs121918044
hgdp	rs121918044
ensembl	rs121918044
geneview	rs121918044
scholar	rs121918044
google	rs121918044
pharmgkb	rs121918044
gwascentral	rs121918044
openSNP	rs121918044
23andMe	rs121918044
SNPshot	rs121918044
SNPdbe	rs121918044
MSV3d	rs121918044
GWAS Ctlg	rs121918044

Max Magnitude

0

OMIM	174763
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918044(G;G)
Alt	rs121918044(G;G)
Reference	Rs121918044(T;T)
Significance	Pathogenic
Disease	Cerebellar ataxia infantile with progressive external ophthalmoplegia not provided
Variation	info
Gene	POLG
CLNDBN	Cerebellar ataxia infantile with progressive external ophthalmoplegia not provided
Reversed	1
HGVS	NC_000015.9:g.89872286A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014444.27, RCV000188648.2,