rs372983141

Orientation

plus

Stabilized

plus

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

Make rs372983141(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

12897788

Gene	GCDH, SYCE2

is a	snp
is	mentioned by
dbSNP	rs372983141
dbSNP (classic)	rs372983141
ClinGen	rs372983141
ebi	rs372983141
HLI	rs372983141
Exac	rs372983141
Gnomad	rs372983141
Varsome	rs372983141
LitVar	rs372983141
Map	rs372983141
PheGenI	rs372983141
Biobank	rs372983141
1000 genomes	rs372983141
hgdp	rs372983141
ensembl	rs372983141
geneview	rs372983141
scholar	rs372983141
google	rs372983141
pharmgkb	rs372983141
gwascentral	rs372983141
openSNP	rs372983141
23andMe	rs372983141
SNPshot	rs372983141
SNPdbe	rs372983141
MSV3d	rs372983141
GWAS Ctlg	rs372983141

Max Magnitude

3

ClinVar
Risk	rs372983141(C;C)
Alt	rs372983141(C;C)
Reference	Rs372983141(G;G)
Significance	Pathogenic
Disease	Glutaric aciduria not provided
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1 not provided
Reversed	0
HGVS	NC_000019.9:g.13008602G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000173983.1, RCV000429838.1,