rs199999619

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	Carrier of a Glutaric aciduria type I mutation

Make rs199999619(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

12899466

Gene	GCDH, SYCE2

is a	snp
is	mentioned by
dbSNP	rs199999619
dbSNP (classic)	rs199999619
ClinGen	rs199999619
ebi	rs199999619
HLI	rs199999619
Exac	rs199999619
Gnomad	rs199999619
Varsome	rs199999619
LitVar	rs199999619
Map	rs199999619
PheGenI	rs199999619
Biobank	rs199999619
1000 genomes	rs199999619
hgdp	rs199999619
ensembl	rs199999619
geneview	rs199999619
scholar	rs199999619
google	rs199999619
pharmgkb	rs199999619
gwascentral	rs199999619
openSNP	rs199999619
23andMe	rs199999619
SNPshot	rs199999619
SNPdbe	rs199999619
MSV3d	rs199999619
GWAS Ctlg	rs199999619

Max Magnitude

3

ClinVar
Risk	rs199999619(C;C)
Alt	rs199999619(C;C)
Reference	Rs199999619(A;A)
Significance	Pathogenic
Disease	Glutaric aciduria
Variation	info
Gene	SYCE2 GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13010280A>C
CLNSRC
CLNACC	RCV000174223.1,