rs587776498

Orientation

minus

Stabilized

minus

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

Make rs587776498(C;T)

Make rs587776498(T;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

133373329

Gene	ECHS1, MIR3944

is a	snp
is	mentioned by
dbSNP	rs587776498
dbSNP (classic)	rs587776498
ClinGen	rs587776498
ebi	rs587776498
HLI	rs587776498
Exac	rs587776498
Gnomad	rs587776498
Varsome	rs587776498
LitVar	rs587776498
Map	rs587776498
PheGenI	rs587776498
Biobank	rs587776498
1000 genomes	rs587776498
hgdp	rs587776498
ensembl	rs587776498
geneview	rs587776498
scholar	rs587776498
google	rs587776498
pharmgkb	rs587776498
gwascentral	rs587776498
openSNP	rs587776498
23andMe	rs587776498
SNPshot	rs587776498
SNPdbe	rs587776498
MSV3d	rs587776498
GWAS Ctlg	rs587776498

Max Magnitude

0

ClinVar
Risk	rs587776498(T;T)
Alt	rs587776498(T;T)
Reference	Rs587776498(C;C)
Significance	Pathogenic
Disease	Leigh syndrome Mitochondrial short-chain enoyl-coa hydratase 1 deficiency not provided
Variation	info
Gene	ECHS1 MIR3944
CLNDBN	Leigh syndrome Mitochondrial short-chain enoyl-coa hydratase 1 deficiency not provided
Reversed	1
HGVS	NC_000010.10:g.135186833G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144497.1, RCV000167582.3, RCV000481050.1,