rs121918054

Orientation

minus

Stabilized

minus

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

Make rs121918054(C;C)

Make rs121918054(C;G)

Reference

GRCh38 38.1/142

Chromosome

15

Position

89323460

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs121918054
dbSNP (classic)	rs121918054
ClinGen	rs121918054
ebi	rs121918054
HLI	rs121918054
Exac	rs121918054
Gnomad	rs121918054
Varsome	rs121918054
LitVar	rs121918054
Map	rs121918054
PheGenI	rs121918054
Biobank	rs121918054
1000 genomes	rs121918054
hgdp	rs121918054
ensembl	rs121918054
geneview	rs121918054
scholar	rs121918054
google	rs121918054
pharmgkb	rs121918054
gwascentral	rs121918054
openSNP	rs121918054
23andMe	rs121918054
SNPshot	rs121918054
SNPdbe	rs121918054
MSV3d	rs121918054
GWAS Ctlg	rs121918054

GMAF

0.0004591

Max Magnitude

0

OMIM	174763
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121918054(A;A) rs121918054(C;C)
Alt	rs121918054(A;A) rs121918054(C;C)
Reference	Rs121918054(G;G)
Significance	Other
Disease	Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy Mitochondrial DNA depletion syndrome 4B not provided not specified Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders
Variation	info
Gene	POLG
CLNDBN	Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4B, MNGIE type not provided not specified Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders
Reversed	1
HGVS	NC_000015.9:g.89866691C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014467.30, RCV000174519.2, RCV000174520.2, RCV000188568.3, RCV000190616.1, RCV000233045.1, RCV000370280.1,