rs113994095

minus

Geno	Mag	Summary
(A;A)	7	POLG-related disorders, including ataxias
(A;G)	3	Carrier of a POLG mutation associated with ataxias
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

15

Position

89327201

Gene	MIR6766, POLG

is a	snp
is	mentioned by
dbSNP	rs113994095
dbSNP (classic)	rs113994095
ClinGen	rs113994095
ebi	rs113994095
HLI	rs113994095
Exac	rs113994095
Gnomad	rs113994095
Varsome	rs113994095
LitVar	rs113994095
Map	rs113994095
PheGenI	rs113994095
Biobank	rs113994095
1000 genomes	rs113994095
hgdp	rs113994095
ensembl	rs113994095
geneview	rs113994095
scholar	rs113994095
google	rs113994095
pharmgkb	rs113994095
gwascentral	rs113994095
openSNP	rs113994095
23andMe	rs113994095
SNPshot	rs113994095
SNPdbe	rs113994095
MSV3d	rs113994095
GWAS Ctlg	rs113994095

GMAF

0.0004591

Max Magnitude

7

rs113994095, also known as c.1399G>A, p.Ala467Thr and A467T, represents a mutation in the POLG gene on chromosome 15.

Inherited in a recessive manner, the uncommon rs113994095(A) allele is associated with a variety of syndromes involving ataxias, including mitochondrial DNA depletion syndrome type 4A (Alpers syndrome) and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO).

OMIM	174763
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs113994095(A;A)
Alt	Rs113994095(A;A)
Reference	Rs113994095(G;G)
Significance	Other
Disease	Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not provided POLG-Related Spectrum Disorders
Variation	info
Gene	MIR6766 POLG
CLNDBN	Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Myoclonic epilepsy myopathy sensory ataxia Progressive sclerosing poliodystrophy Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not provided POLG-Related Spectrum Disorders
Reversed	1
HGVS	NC_000015.9:g.89870432C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014440.20, RCV000014441.27, RCV000014442.28, RCV000014443.21, RCV000184011.1, RCV000188658.2, RCV000347876.1,