rs121918051

Orientation

minus

Stabilized

minus

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

Make rs121918051(G;T)

Make rs121918051(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

89320878

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918051
dbSNP (classic)	rs121918051
ClinGen	rs121918051
ebi	rs121918051
HLI	rs121918051
Exac	rs121918051
Gnomad	rs121918051
Varsome	rs121918051
LitVar	rs121918051
Map	rs121918051
PheGenI	rs121918051
Biobank	rs121918051
1000 genomes	rs121918051
hgdp	rs121918051
ensembl	rs121918051
geneview	rs121918051
scholar	rs121918051
google	rs121918051
pharmgkb	rs121918051
gwascentral	rs121918051
openSNP	rs121918051
23andMe	rs121918051
SNPshot	rs121918051
SNPdbe	rs121918051
MSV3d	rs121918051
GWAS Ctlg	rs121918051

Max Magnitude

0

OMIM	174763
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918051(T;T)
Alt	rs121918051(T;T)
Reference	Rs121918051(G;G)
Significance	Pathogenic
Disease	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Variation	info
Gene	POLG
CLNDBN	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Reversed	1
HGVS	NC_000015.9:g.89864109C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014462.19,