rs397514659

Orientation

minus

Stabilized

minus

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

Make rs397514659(C;G)

Make rs397514659(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

64492970

Gene

POLG2

is a	snp
is	mentioned by
dbSNP	rs397514659
dbSNP (classic)	rs397514659
ClinGen	rs397514659
ebi	rs397514659
HLI	rs397514659
Exac	rs397514659
Gnomad	rs397514659
Varsome	rs397514659
LitVar	rs397514659
Map	rs397514659
PheGenI	rs397514659
Biobank	rs397514659
1000 genomes	rs397514659
hgdp	rs397514659
ensembl	rs397514659
geneview	rs397514659
scholar	rs397514659
google	rs397514659
pharmgkb	rs397514659
gwascentral	rs397514659
openSNP	rs397514659
23andMe	rs397514659
SNPshot	rs397514659
SNPdbe	rs397514659
MSV3d	rs397514659
GWAS Ctlg	rs397514659

Max Magnitude

0

ClinVar
Risk	rs397514659(G;G)
Alt	rs397514659(G;G)
Reference	Rs397514659(C;C)
Significance	Pathogenic
Disease	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Variation	info
Gene	MILR1 POLG2
CLNDBN	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Reversed	1
HGVS	NC_000017.10:g.62489087G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033245.5,