rs1057516899

Orientation

plus

Stabilized

plus

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

Make rs1057516899(-;-)

Make rs1057516899(-;TTGT)

Make rs1057516899(TTGT;TTGT)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12896234

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs1057516899
dbSNP (classic)	rs1057516899
ClinGen	rs1057516899
ebi	rs1057516899
HLI	rs1057516899
Exac	rs1057516899
Gnomad	rs1057516899
Varsome	rs1057516899
LitVar	rs1057516899
Map	rs1057516899
PheGenI	rs1057516899
Biobank	rs1057516899
1000 genomes	rs1057516899
hgdp	rs1057516899
ensembl	rs1057516899
geneview	rs1057516899
scholar	rs1057516899
google	rs1057516899
pharmgkb	rs1057516899
gwascentral	rs1057516899
openSNP	rs1057516899
23andMe	rs1057516899
SNPshot	rs1057516899
SNPdbe	rs1057516899
MSV3d	rs1057516899
GWAS Ctlg	rs1057516899

Max Magnitude

0

ClinVar
Risk	rs1057516899(-;-)
Alt	rs1057516899(-;-)
Reference	Rs1057516899(TGTT;TGTT)
Significance	Probable-Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13007048_13007051delTTGT
CLNSRC
CLNACC	RCV000410473.1,