rs1057516412

Orientation

plus

Stabilized

plus

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

Make rs1057516412(G;T)

Make rs1057516412(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12891875

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs1057516412
dbSNP (classic)	rs1057516412
ClinGen	rs1057516412
ebi	rs1057516412
HLI	rs1057516412
Exac	rs1057516412
Gnomad	rs1057516412
Varsome	rs1057516412
LitVar	rs1057516412
Map	rs1057516412
PheGenI	rs1057516412
Biobank	rs1057516412
1000 genomes	rs1057516412
hgdp	rs1057516412
ensembl	rs1057516412
geneview	rs1057516412
scholar	rs1057516412
google	rs1057516412
pharmgkb	rs1057516412
gwascentral	rs1057516412
openSNP	rs1057516412
23andMe	rs1057516412
SNPshot	rs1057516412
SNPdbe	rs1057516412
MSV3d	rs1057516412
GWAS Ctlg	rs1057516412

Max Magnitude

0

ClinVar
Risk	rs1057516412(T;T)
Alt	rs1057516412(T;T)
Reference	Rs1057516412(G;G)
Significance	Probable-Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13002689G>T
CLNSRC
CLNACC	RCV000412281.1,