rs761491320
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs761491320(-;-) |
Make rs761491320(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 12896417 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs761491320 |
dbSNP (classic) | rs761491320 |
ClinGen | rs761491320 |
ebi | rs761491320 |
HLI | rs761491320 |
Exac | rs761491320 |
Gnomad | rs761491320 |
Varsome | rs761491320 |
LitVar | rs761491320 |
Map | rs761491320 |
PheGenI | rs761491320 |
Biobank | rs761491320 |
1000 genomes | rs761491320 |
hgdp | rs761491320 |
ensembl | rs761491320 |
geneview | rs761491320 |
scholar | rs761491320 |
rs761491320 | |
pharmgkb | rs761491320 |
gwascentral | rs761491320 |
openSNP | rs761491320 |
23andMe | rs761491320 |
SNPshot | rs761491320 |
SNPdbe | rs761491320 |
MSV3d | rs761491320 |
GWAS Ctlg | rs761491320 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761491320(-;-) |
Alt | rs761491320(-;-) |
Reference | Rs761491320(T;T) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13007231delT |
CLNSRC | |
CLNACC | RCV000410398.1, |