rs1057516344

Orientation

plus

Stabilized

plus

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

Make rs1057516344(C;T)

Make rs1057516344(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12896312

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs1057516344
dbSNP (classic)	rs1057516344
ClinGen	rs1057516344
ebi	rs1057516344
HLI	rs1057516344
Exac	rs1057516344
Gnomad	rs1057516344
Varsome	rs1057516344
LitVar	rs1057516344
Map	rs1057516344
PheGenI	rs1057516344
Biobank	rs1057516344
1000 genomes	rs1057516344
hgdp	rs1057516344
ensembl	rs1057516344
geneview	rs1057516344
scholar	rs1057516344
google	rs1057516344
pharmgkb	rs1057516344
gwascentral	rs1057516344
openSNP	rs1057516344
23andMe	rs1057516344
SNPshot	rs1057516344
SNPdbe	rs1057516344
MSV3d	rs1057516344
GWAS Ctlg	rs1057516344

Max Magnitude

0

ClinVar
Risk	rs1057516344(T;T)
Alt	rs1057516344(T;T)
Reference	Rs1057516344(C;C)
Significance	Probable-Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13007126C>T
CLNSRC
CLNACC	RCV000411040.1,