rs786205431

Orientation

minus

Stabilized

minus

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

Make rs786205431(-;-)

Make rs786205431(-;TT)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

23802526

Gene	GALE, HMGCL

is a	snp
is	mentioned by
dbSNP	rs786205431
dbSNP (classic)	rs786205431
ClinGen	rs786205431
ebi	rs786205431
HLI	rs786205431
Exac	rs786205431
Gnomad	rs786205431
Varsome	rs786205431
LitVar	rs786205431
Map	rs786205431
PheGenI	rs786205431
Biobank	rs786205431
1000 genomes	rs786205431
hgdp	rs786205431
ensembl	rs786205431
geneview	rs786205431
scholar	rs786205431
google	rs786205431
pharmgkb	rs786205431
gwascentral	rs786205431
openSNP	rs786205431
23andMe	rs786205431
SNPshot	rs786205431
SNPdbe	rs786205431
MSV3d	rs786205431
GWAS Ctlg	rs786205431

Max Magnitude

0

ClinVar
Risk	rs786205431(-;-)
Alt	rs786205431(-;-)
Reference	Rs786205431(TT;TT)
Significance	Pathogenic
Disease	Deficiency of hydroxymethylglutaryl-CoA lyase
Variation	info
Gene	HMGCL GALE
CLNDBN	Deficiency of hydroxymethylglutaryl-CoA lyase
Reversed	1
HGVS	NC_000001.10:g.24129016_24129017delAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032616.5,