rs118192103

Orientation

plus

Stabilized

plus

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

Make rs118192103(A;A)

Make rs118192103(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8342

is a	snp
is	mentioned by
dbSNP	rs118192103
dbSNP (classic)	rs118192103
ClinGen	rs118192103
ebi	rs118192103
HLI	rs118192103
Exac	rs118192103
Gnomad	rs118192103
Varsome	rs118192103
LitVar	rs118192103
Map	rs118192103
PheGenI	rs118192103
Biobank	rs118192103
1000 genomes	rs118192103
hgdp	rs118192103
ensembl	rs118192103
geneview	rs118192103
scholar	rs118192103
google	rs118192103
pharmgkb	rs118192103
gwascentral	rs118192103
openSNP	rs118192103
23andMe	rs118192103
SNPshot	rs118192103
SNPdbe	rs118192103
MSV3d	rs118192103
GWAS Ctlg	rs118192103

Max Magnitude

0

ClinVar
Risk	rs118192103(A;A)
Alt	rs118192103(A;A)
Reference	Rs118192103(G;G)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia with myoclonus not specified
Variation	info
Gene
CLNDBN	Progressive external ophthalmoplegia with myoclonus not specified
Reversed	0
HGVS	NC_012920.1:m.8342G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010198.4, RCV000223829.1,