rs1057517407

Orientation

plus

Stabilized

plus

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

Make rs1057517407(-;-)

Make rs1057517407(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12896930

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs1057517407
dbSNP (classic)	rs1057517407
ClinGen	rs1057517407
ebi	rs1057517407
HLI	rs1057517407
Exac	rs1057517407
Gnomad	rs1057517407
Varsome	rs1057517407
LitVar	rs1057517407
Map	rs1057517407
PheGenI	rs1057517407
Biobank	rs1057517407
1000 genomes	rs1057517407
hgdp	rs1057517407
ensembl	rs1057517407
geneview	rs1057517407
scholar	rs1057517407
google	rs1057517407
pharmgkb	rs1057517407
gwascentral	rs1057517407
openSNP	rs1057517407
23andMe	rs1057517407
SNPshot	rs1057517407
SNPdbe	rs1057517407
MSV3d	rs1057517407
GWAS Ctlg	rs1057517407

Max Magnitude

0

ClinVar
Risk	rs1057517407(-;-)
Alt	rs1057517407(-;-)
Reference	Rs1057517407(C;C)
Significance	Probable-Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13007744delC
CLNSRC
CLNACC	RCV000412413.1,