rs752334462
From SNPedia
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 rs752334462(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12893530 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs752334462 |
dbSNP (classic) | rs752334462 |
ClinGen | rs752334462 |
ebi | rs752334462 |
HLI | rs752334462 |
Exac | rs752334462 |
Gnomad | rs752334462 |
Varsome | rs752334462 |
LitVar | rs752334462 |
Map | rs752334462 |
PheGenI | rs752334462 |
Biobank | rs752334462 |
1000 genomes | rs752334462 |
hgdp | rs752334462 |
ensembl | rs752334462 |
geneview | rs752334462 |
scholar | rs752334462 |
rs752334462 | |
pharmgkb | rs752334462 |
gwascentral | rs752334462 |
openSNP | rs752334462 |
23andMe | rs752334462 |
SNPshot | rs752334462 |
SNPdbe | rs752334462 |
MSV3d | rs752334462 |
GWAS Ctlg | rs752334462 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs752334462(T;T) |
Alt | rs752334462(T;T) |
Reference | Rs752334462(C;C) |
Significance | Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13004344C>T |
CLNSRC | |
CLNACC | RCV000409274.1, |