rs113994096

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 rs113994096(T;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

89325639

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs113994096
dbSNP (classic)	rs113994096
ClinGen	rs113994096
ebi	rs113994096
HLI	rs113994096
Exac	rs113994096
Gnomad	rs113994096
Varsome	rs113994096
LitVar	rs113994096
Map	rs113994096
PheGenI	rs113994096
Biobank	rs113994096
1000 genomes	rs113994096
hgdp	rs113994096
ensembl	rs113994096
geneview	rs113994096
scholar	rs113994096
google	rs113994096
pharmgkb	rs113994096
gwascentral	rs113994096
openSNP	rs113994096
23andMe	rs113994096
SNPshot	rs113994096
SNPdbe	rs113994096
MSV3d	rs113994096
GWAS Ctlg	rs113994096

GMAF

0.0009183

Max Magnitude

3

23andMe name: i5006729

OMIM	174763
Desc
Variant	0011
Related	also

ClinVar
Risk	rs113994096(T;T)
Alt	rs113994096(T;T)
Reference	Rs113994096(C;C)
Significance	Other
Disease	Mitochondrial DNA depletion syndrome 4B Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cerebellar ataxia infantile with progressive external ophthalmoplegia not specified Progressive sclerosing poliodystrophy Global developmental delay not provided
Variation	info
Gene	POLG
CLNDBN	Mitochondrial DNA depletion syndrome 4B, MNGIE type Mitochondrial DNA depletion syndrome 1 (MNGIE type) Cerebellar ataxia infantile with progressive external ophthalmoplegia not specified Progressive sclerosing poliodystrophy Global developmental delay not provided
Reversed	1
HGVS	NC_000015.9:g.89868870G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014456.28, RCV000020473.1, RCV000186576.4, RCV000193529.1, RCV000408293.1, RCV000415307.1, RCV000427845.1,