rs752127949

Orientation

plus

Stabilized

plus

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

Make rs752127949(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

12897776

Gene	GCDH, SYCE2

is a	snp
is	mentioned by
dbSNP	rs752127949
dbSNP (classic)	rs752127949
ClinGen	rs752127949
ebi	rs752127949
HLI	rs752127949
Exac	rs752127949
Gnomad	rs752127949
Varsome	rs752127949
LitVar	rs752127949
Map	rs752127949
PheGenI	rs752127949
Biobank	rs752127949
1000 genomes	rs752127949
hgdp	rs752127949
ensembl	rs752127949
geneview	rs752127949
scholar	rs752127949
google	rs752127949
pharmgkb	rs752127949
gwascentral	rs752127949
openSNP	rs752127949
23andMe	rs752127949
SNPshot	rs752127949
SNPdbe	rs752127949
MSV3d	rs752127949
GWAS Ctlg	rs752127949

Max Magnitude

3

ClinVar
Risk	rs752127949(G;G) rs752127949(T;T)
Alt	rs752127949(G;G) rs752127949(T;T)
Reference	Rs752127949(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	GCDH
CLNDBN	not provided
Reversed	0
HGVS	NC_000019.9:g.13008590C>G; NC_000019.9:g.13008590C>T
CLNSRC
CLNACC	RCV000430164.1, RCV000224565.1,