rs797044543

Orientation

plus

Stabilized

plus

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

Make rs797044543(A;G)

Make rs797044543(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

4279

is a	snp
is	mentioned by
dbSNP	rs797044543
dbSNP (classic)	rs797044543
ClinGen	rs797044543
ebi	rs797044543
HLI	rs797044543
Exac	rs797044543
Gnomad	rs797044543
Varsome	rs797044543
LitVar	rs797044543
Map	rs797044543
PheGenI	rs797044543
Biobank	rs797044543
1000 genomes	rs797044543
hgdp	rs797044543
ensembl	rs797044543
geneview	rs797044543
scholar	rs797044543
google	rs797044543
pharmgkb	rs797044543
gwascentral	rs797044543
openSNP	rs797044543
23andMe	rs797044543
SNPshot	rs797044543
SNPdbe	rs797044543
MSV3d	rs797044543
GWAS Ctlg	rs797044543

Max Magnitude

0

ClinVar
Risk	rs797044543(G;G)
Alt	rs797044543(G;G)
Reference	Rs797044543(A;A)
Significance	Pathogenic
Disease	Myoclonus with epilepsy with ragged red fibers
Variation	info
Gene
CLNDBN	Myoclonus with epilepsy with ragged red fibers
Reversed	0
HGVS	NC_012920.1:m.4279A>G
CLNSRC
CLNACC	RCV000192055.1,