rs1057516715

Orientation

plus

Stabilized

plus

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

Make rs1057516715(G;T)

Make rs1057516715(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12896000

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs1057516715
dbSNP (classic)	rs1057516715
ClinGen	rs1057516715
ebi	rs1057516715
HLI	rs1057516715
Exac	rs1057516715
Gnomad	rs1057516715
Varsome	rs1057516715
LitVar	rs1057516715
Map	rs1057516715
PheGenI	rs1057516715
Biobank	rs1057516715
1000 genomes	rs1057516715
hgdp	rs1057516715
ensembl	rs1057516715
geneview	rs1057516715
scholar	rs1057516715
google	rs1057516715
pharmgkb	rs1057516715
gwascentral	rs1057516715
openSNP	rs1057516715
23andMe	rs1057516715
SNPshot	rs1057516715
SNPdbe	rs1057516715
MSV3d	rs1057516715
GWAS Ctlg	rs1057516715

Max Magnitude

0

ClinVar
Risk	rs1057516715(T;T)
Alt	rs1057516715(T;T)
Reference	Rs1057516715(G;G)
Significance	Probable-Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13006814G>T
CLNSRC
CLNACC	RCV000412058.1,