rs1057516234

Orientation

plus

Stabilized

plus

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

Make rs1057516234(C;T)

Make rs1057516234(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12891929

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs1057516234
dbSNP (classic)	rs1057516234
ClinGen	rs1057516234
ebi	rs1057516234
HLI	rs1057516234
Exac	rs1057516234
Gnomad	rs1057516234
Varsome	rs1057516234
LitVar	rs1057516234
Map	rs1057516234
PheGenI	rs1057516234
Biobank	rs1057516234
1000 genomes	rs1057516234
hgdp	rs1057516234
ensembl	rs1057516234
geneview	rs1057516234
scholar	rs1057516234
google	rs1057516234
pharmgkb	rs1057516234
gwascentral	rs1057516234
openSNP	rs1057516234
23andMe	rs1057516234
SNPshot	rs1057516234
SNPdbe	rs1057516234
MSV3d	rs1057516234
GWAS Ctlg	rs1057516234

Max Magnitude

0

ClinVar
Risk	rs1057516234(T;T)
Alt	rs1057516234(T;T)
Reference	Rs1057516234(C;C)
Significance	Probable-Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13002743C>T
CLNSRC
CLNACC	RCV000410967.1,