rs199474662

Orientation

plus

Stabilized

plus

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

Make rs199474662(A;G)

Make rs199474662(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

3251

is a	snp
is	mentioned by
dbSNP	rs199474662
dbSNP (classic)	rs199474662
ClinGen	rs199474662
ebi	rs199474662
HLI	rs199474662
Exac	rs199474662
Gnomad	rs199474662
Varsome	rs199474662
LitVar	rs199474662
Map	rs199474662
PheGenI	rs199474662
Biobank	rs199474662
1000 genomes	rs199474662
hgdp	rs199474662
ensembl	rs199474662
geneview	rs199474662
scholar	rs199474662
google	rs199474662
pharmgkb	rs199474662
gwascentral	rs199474662
openSNP	rs199474662
23andMe	rs199474662
SNPshot	rs199474662
SNPdbe	rs199474662
MSV3d	rs199474662
GWAS Ctlg	rs199474662

Max Magnitude

0

ClinVar
Risk	rs199474662(G;G)
Alt	rs199474662(G;G)
Reference	Rs199474662(A;A)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia
Variation	info
Gene
CLNDBN	Progressive external ophthalmoplegia, proximal myopathy, and sudden death
Reversed	0
HGVS	NC_012920.1:m.3251A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010218.2,