rs104894632

Orientation

minus

Stabilized

minus

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

Make rs104894632(A;A)

Make rs104894632(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

64477929

Gene

POLG2

is a	snp
is	mentioned by
dbSNP	rs104894632
dbSNP (classic)	rs104894632
ClinGen	rs104894632
ebi	rs104894632
HLI	rs104894632
Exac	rs104894632
Gnomad	rs104894632
Varsome	rs104894632
LitVar	rs104894632
Map	rs104894632
PheGenI	rs104894632
Biobank	rs104894632
1000 genomes	rs104894632
hgdp	rs104894632
ensembl	rs104894632
geneview	rs104894632
scholar	rs104894632
google	rs104894632
pharmgkb	rs104894632
gwascentral	rs104894632
openSNP	rs104894632
23andMe	rs104894632
SNPshot	rs104894632
SNPdbe	rs104894632
MSV3d	rs104894632
GWAS Ctlg	rs104894632

Max Magnitude

0

OMIM	604983
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894632(A;A)
Alt	rs104894632(A;A)
Reference	Rs104894632(G;G)
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.62474046C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005594.3,