rs587776497

Orientation

minus

Stabilized

minus

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

Make rs587776497(G;G)

Make rs587776497(G;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

133373332

Gene	ECHS1, MIR3944

is a	snp
is	mentioned by
dbSNP	rs587776497
dbSNP (classic)	rs587776497
ClinGen	rs587776497
ebi	rs587776497
HLI	rs587776497
Exac	rs587776497
Gnomad	rs587776497
Varsome	rs587776497
LitVar	rs587776497
Map	rs587776497
PheGenI	rs587776497
Biobank	rs587776497
1000 genomes	rs587776497
hgdp	rs587776497
ensembl	rs587776497
geneview	rs587776497
scholar	rs587776497
google	rs587776497
pharmgkb	rs587776497
gwascentral	rs587776497
openSNP	rs587776497
23andMe	rs587776497
SNPshot	rs587776497
SNPdbe	rs587776497
MSV3d	rs587776497
GWAS Ctlg	rs587776497

Max Magnitude

0

ClinVar
Risk	rs587776497(G;G)
Alt	rs587776497(G;G)
Reference	Rs587776497(T;T)
Significance	Pathogenic
Disease	Leigh syndrome Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Variation	info
Gene	ECHS1 MIR3944
CLNDBN	Leigh syndrome Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Reversed	1
HGVS	NC_000010.10:g.135186836A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144496.1, RCV000167581.3,