rs786204002

Orientation

minus

Stabilized

minus

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

Make rs786204002(C;C)

Make rs786204002(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

10

Position

133369901

Gene

ECHS1

is a	snp
is	mentioned by
dbSNP	rs786204002
dbSNP (classic)	rs786204002
ClinGen	rs786204002
ebi	rs786204002
HLI	rs786204002
Exac	rs786204002
Gnomad	rs786204002
Varsome	rs786204002
LitVar	rs786204002
Map	rs786204002
PheGenI	rs786204002
Biobank	rs786204002
1000 genomes	rs786204002
hgdp	rs786204002
ensembl	rs786204002
geneview	rs786204002
scholar	rs786204002
google	rs786204002
pharmgkb	rs786204002
gwascentral	rs786204002
openSNP	rs786204002
23andMe	rs786204002
SNPshot	rs786204002
SNPdbe	rs786204002
MSV3d	rs786204002
GWAS Ctlg	rs786204002

Max Magnitude

0

ClinVar
Risk	rs786204002(C;C)
Alt	rs786204002(C;C)
Reference	Rs786204002(G;G)
Significance	Pathogenic
Disease	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Variation	info
Gene	ECHS1
CLNDBN	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Reversed	1
HGVS	NC_000010.10:g.135183405C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167580.3,