rs121434468

Orientation

plus

Stabilized

plus

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

Make rs121434468(A;A)

Make rs121434468(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

4284

is a	snp
is	mentioned by
dbSNP	rs121434468
dbSNP (classic)	rs121434468
ClinGen	rs121434468
ebi	rs121434468
HLI	rs121434468
Exac	rs121434468
Gnomad	rs121434468
Varsome	rs121434468
LitVar	rs121434468
Map	rs121434468
PheGenI	rs121434468
Biobank	rs121434468
1000 genomes	rs121434468
hgdp	rs121434468
ensembl	rs121434468
geneview	rs121434468
scholar	rs121434468
google	rs121434468
pharmgkb	rs121434468
gwascentral	rs121434468
openSNP	rs121434468
23andMe	rs121434468
SNPshot	rs121434468
SNPdbe	rs121434468
MSV3d	rs121434468
GWAS Ctlg	rs121434468

Max Magnitude

0

ClinVar
Risk	rs121434468(A;A)
Alt	rs121434468(A;A)
Reference	Rs121434468(G;G)
Significance	Pathogenic
Disease	Multisystem disorder Myoclonus with epilepsy with ragged red fibers
Variation	info
Gene
CLNDBN	Multisystem disorder Myoclonus with epilepsy with ragged red fibers
Reversed	0
HGVS	NC_012920.1:m.4284G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010227.4, RCV000192056.1,