rs149120354

Orientation

plus

Stabilized

plus

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

Make rs149120354(C;C)

Make rs149120354(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

12896058

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs149120354
dbSNP (classic)	rs149120354
ClinGen	rs149120354
ebi	rs149120354
HLI	rs149120354
Exac	rs149120354
Gnomad	rs149120354
Varsome	rs149120354
LitVar	rs149120354
Map	rs149120354
PheGenI	rs149120354
Biobank	rs149120354
1000 genomes	rs149120354
hgdp	rs149120354
ensembl	rs149120354
geneview	rs149120354
scholar	rs149120354
google	rs149120354
pharmgkb	rs149120354
gwascentral	rs149120354
openSNP	rs149120354
23andMe	rs149120354
SNPshot	rs149120354
SNPdbe	rs149120354
MSV3d	rs149120354
GWAS Ctlg	rs149120354

Max Magnitude

0

ClinVar
Risk	rs149120354(C;C)
Alt	rs149120354(C;C)
Reference	Rs149120354(T;T)
Significance	Probable-Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13006872T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000179723.1,