rs147611168

Orientation

plus

Stabilized

plus

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

Make rs147611168(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

12897860

Gene	GCDH, SYCE2

is a	snp
is	mentioned by
dbSNP	rs147611168
dbSNP (classic)	rs147611168
ClinGen	rs147611168
ebi	rs147611168
HLI	rs147611168
Exac	rs147611168
Gnomad	rs147611168
Varsome	rs147611168
LitVar	rs147611168
Map	rs147611168
PheGenI	rs147611168
Biobank	rs147611168
1000 genomes	rs147611168
hgdp	rs147611168
ensembl	rs147611168
geneview	rs147611168
scholar	rs147611168
google	rs147611168
pharmgkb	rs147611168
gwascentral	rs147611168
openSNP	rs147611168
23andMe	rs147611168
SNPshot	rs147611168
SNPdbe	rs147611168
MSV3d	rs147611168
GWAS Ctlg	rs147611168

Max Magnitude

3

ClinVar
Risk	rs147611168(A;A)
Alt	rs147611168(A;A)
Reference	Rs147611168(G;G)
Significance	Pathogenic
Disease	not provided Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	not provided Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13008674G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153312.2, RCV000173984.1,