rs113994094

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a possible mutation for a mitochondrial syndrome, but significance unclear

Make rs113994094(T;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

89330184

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs113994094
dbSNP (classic)	rs113994094
ClinGen	rs113994094
ebi	rs113994094
HLI	rs113994094
Exac	rs113994094
Gnomad	rs113994094
Varsome	rs113994094
LitVar	rs113994094
Map	rs113994094
PheGenI	rs113994094
Biobank	rs113994094
1000 genomes	rs113994094
hgdp	rs113994094
ensembl	rs113994094
geneview	rs113994094
scholar	rs113994094
google	rs113994094
pharmgkb	rs113994094
gwascentral	rs113994094
openSNP	rs113994094
23andMe	rs113994094
SNPshot	rs113994094
SNPdbe	rs113994094
MSV3d	rs113994094
GWAS Ctlg	rs113994094

GMAF

0.0009183

Max Magnitude

3

23andMe name: i5006725

OMIM	174763
Desc
Variant	0007
Related	also

ClinVar
Risk	rs113994094(T;T)
Alt	rs113994094(T;T)
Reference	Rs113994094(C;C)
Significance	Other
Disease	Cerebellar ataxia infantile with progressive external ophthalmoplegia Mitochondrial DNA depletion syndrome 4B Mitochondrial DNA depletion syndrome 1 (MNGIE type) Progressive sclerosing poliodystrophy not provided not specified POLG-Related Spectrum Disorders Global developmental delay
Variation	info
Gene	POLG
CLNDBN	Cerebellar ataxia infantile with progressive external ophthalmoplegia Mitochondrial DNA depletion syndrome 4B, MNGIE type Mitochondrial DNA depletion syndrome 1 (MNGIE type) Progressive sclerosing poliodystrophy not provided not specified POLG-Related Spectrum Disorders Global developmental delay
Reversed	1
HGVS	NC_000015.9:g.89873415G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014447.20, RCV000014448.20, RCV000020484.1, RCV000184009.2, RCV000188641.4, RCV000194055.1, RCV000262479.1, RCV000415105.1,