rs118192104

Orientation

plus

Stabilized

plus

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

Make rs118192104(A;A)

Make rs118192104(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8361

is a	snp
is	mentioned by
dbSNP	rs118192104
dbSNP (classic)	rs118192104
ClinGen	rs118192104
ebi	rs118192104
HLI	rs118192104
Exac	rs118192104
Gnomad	rs118192104
Varsome	rs118192104
LitVar	rs118192104
Map	rs118192104
PheGenI	rs118192104
Biobank	rs118192104
1000 genomes	rs118192104
hgdp	rs118192104
ensembl	rs118192104
geneview	rs118192104
scholar	rs118192104
google	rs118192104
pharmgkb	rs118192104
gwascentral	rs118192104
openSNP	rs118192104
23andMe	rs118192104
SNPshot	rs118192104
SNPdbe	rs118192104
MSV3d	rs118192104
GWAS Ctlg	rs118192104

Max Magnitude

0

ClinVar
Risk	rs118192104(A;A)
Alt	rs118192104(A;A)
Reference	Rs118192104(G;G)
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.8361G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010202.3,