rs777828000
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs777828000(A;A) |
Make rs777828000(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 130471489 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs777828000 |
dbSNP (classic) | rs777828000 |
ClinGen | rs777828000 |
ebi | rs777828000 |
HLI | rs777828000 |
Exac | rs777828000 |
Gnomad | rs777828000 |
Varsome | rs777828000 |
LitVar | rs777828000 |
Map | rs777828000 |
PheGenI | rs777828000 |
Biobank | rs777828000 |
1000 genomes | rs777828000 |
hgdp | rs777828000 |
ensembl | rs777828000 |
geneview | rs777828000 |
scholar | rs777828000 |
rs777828000 | |
pharmgkb | rs777828000 |
gwascentral | rs777828000 |
openSNP | rs777828000 |
23andMe | rs777828000 |
SNPshot | rs777828000 |
SNPdbe | rs777828000 |
MSV3d | rs777828000 |
GWAS Ctlg | rs777828000 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777828000(A;A) |
Alt | rs777828000(A;A) |
Reference | Rs777828000(G;G) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133346876G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000190357.1, |