rs118192100

Orientation

plus

Stabilized

plus

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

Make rs118192100(A;A)

Make rs118192100(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8363

is a	snp
is	mentioned by
dbSNP	rs118192100
dbSNP (classic)	rs118192100
ClinGen	rs118192100
ebi	rs118192100
HLI	rs118192100
Exac	rs118192100
Gnomad	rs118192100
Varsome	rs118192100
LitVar	rs118192100
Map	rs118192100
PheGenI	rs118192100
Biobank	rs118192100
1000 genomes	rs118192100
hgdp	rs118192100
ensembl	rs118192100
geneview	rs118192100
scholar	rs118192100
google	rs118192100
pharmgkb	rs118192100
gwascentral	rs118192100
openSNP	rs118192100
23andMe	rs118192100
SNPshot	rs118192100
SNPdbe	rs118192100
MSV3d	rs118192100
GWAS Ctlg	rs118192100

Max Magnitude

0

ClinVar
Risk	rs118192100(A;A)
Alt	rs118192100(A;A)
Reference	Rs118192100(G;G)
Significance	Pathogenic
Disease	Cardiomyopathy and Deafness Leigh syndrome Myoclonus with epilepsy with ragged red fibers
Variation	info
Gene
CLNDBN	Cardiomyopathy and Deafness Leigh syndrome Myoclonus with epilepsy with ragged red fibers
Reversed	0
HGVS	NC_012920.1:m.8363G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010197.6, RCV000144004.2, RCV000192053.1,