rs777201305

Orientation

plus

Stabilized

plus

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

Make rs777201305(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

12893630

Gene

GCDH

is a	snp
is	mentioned by
dbSNP	rs777201305
dbSNP (classic)	rs777201305
ClinGen	rs777201305
ebi	rs777201305
HLI	rs777201305
Exac	rs777201305
Gnomad	rs777201305
Varsome	rs777201305
LitVar	rs777201305
Map	rs777201305
PheGenI	rs777201305
Biobank	rs777201305
1000 genomes	rs777201305
hgdp	rs777201305
ensembl	rs777201305
geneview	rs777201305
scholar	rs777201305
google	rs777201305
pharmgkb	rs777201305
gwascentral	rs777201305
openSNP	rs777201305
23andMe	rs777201305
SNPshot	rs777201305
SNPdbe	rs777201305
MSV3d	rs777201305
GWAS Ctlg	rs777201305

Max Magnitude

3

ClinVar
Risk	rs777201305(A;A)
Alt	rs777201305(A;A)
Reference	Rs777201305(G;G)
Significance	Other
Disease	Glutaric aciduria
Variation	info
Gene	GCDH
CLNDBN	Glutaric aciduria, type 1
Reversed	0
HGVS	NC_000019.9:g.13004444G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169118.3,