rs121434366

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Carrier of a Glutaric aciduria type I mutation
(T;T)	0	common in clinvar

Make rs121434366(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

12896940

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs121434366
dbSNP (classic)	rs121434366
ClinGen	rs121434366
ebi	rs121434366
HLI	rs121434366
Exac	rs121434366
Gnomad	rs121434366
Varsome	rs121434366
LitVar	rs121434366
Map	rs121434366
PheGenI	rs121434366
Biobank	rs121434366
1000 genomes	rs121434366
hgdp	rs121434366
ensembl	rs121434366
geneview	rs121434366
scholar	rs121434366
google	rs121434366
pharmgkb	rs121434366
gwascentral	rs121434366
openSNP	rs121434366
23andMe	rs121434366
SNPshot	rs121434366
SNPdbe	rs121434366
MSV3d	rs121434366
GWAS Ctlg	rs121434366

Max Magnitude

3

OMIM	608801
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434366(C;C)
Alt	rs121434366(C;C)
Reference	Rs121434366(T;T)
Significance	Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13007754T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002162.2,