rs142967670

Orientation

plus

Stabilized

plus

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

Make rs142967670(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

12891965

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs142967670
dbSNP (classic)	rs142967670
ClinGen	rs142967670
ebi	rs142967670
HLI	rs142967670
Exac	rs142967670
Gnomad	rs142967670
Varsome	rs142967670
LitVar	rs142967670
Map	rs142967670
PheGenI	rs142967670
Biobank	rs142967670
1000 genomes	rs142967670
hgdp	rs142967670
ensembl	rs142967670
geneview	rs142967670
scholar	rs142967670
google	rs142967670
pharmgkb	rs142967670
gwascentral	rs142967670
openSNP	rs142967670
23andMe	rs142967670
SNPshot	rs142967670
SNPdbe	rs142967670
MSV3d	rs142967670
GWAS Ctlg	rs142967670

Max Magnitude

3

ClinVar
Risk	rs142967670(A;A) rs142967670(T;T)
Alt	rs142967670(A;A) rs142967670(T;T)
Reference	Rs142967670(C;C)
Significance	Pathogenic
Disease	Glutaric aciduria not provided
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1 not provided
Reversed	0
HGVS	NC_000019.9:g.13002779C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169574.1, RCV000255875.1,