rs41549716

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	0.5	likely to be benign
(G;G)	0.5	likely to be benign

Reference

GRCh38 38.1/141

Chromosome

15

Position

89321842

Gene

POLG

is a	snp
is	mentioned by
dbSNP	rs41549716
dbSNP (classic)	rs41549716
ClinGen	rs41549716
ebi	rs41549716
HLI	rs41549716
Exac	rs41549716
Gnomad	rs41549716
Varsome	rs41549716
LitVar	rs41549716
Map	rs41549716
PheGenI	rs41549716
Biobank	rs41549716
1000 genomes	rs41549716
hgdp	rs41549716
ensembl	rs41549716
geneview	rs41549716
scholar	rs41549716
google	rs41549716
pharmgkb	rs41549716
gwascentral	rs41549716
openSNP	rs41549716
23andMe	rs41549716
SNPshot	rs41549716
SNPdbe	rs41549716
MSV3d	rs41549716
GWAS Ctlg	rs41549716

GMAF

0.001837

Max Magnitude

0.5

Reclassified as a variant of unknown significance, and quite likely to be benign. See OMIM 174763.0015

OMIM	174763
Desc
Variant	0015
Related	also

ClinVar
Risk	Rs41549716(G;G)
Alt	Rs41549716(G;G)
Reference	Rs41549716(A;A)
Significance	Other
Disease	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not specified not provided Progressive sclerosing poliodystrophy
Variation	info
Gene	POLG
CLNDBN	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 not specified not provided Progressive sclerosing poliodystrophy
Reversed	1
HGVS	NC_000015.9:g.89865073T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014463.28, RCV000175036.4, RCV000224425.1, RCV000464026.1,