rs370595480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370595480(A;A) |
Make rs370595480(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 130480416 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs370595480 |
dbSNP (classic) | rs370595480 |
ClinGen | rs370595480 |
ebi | rs370595480 |
HLI | rs370595480 |
Exac | rs370595480 |
Gnomad | rs370595480 |
Varsome | rs370595480 |
LitVar | rs370595480 |
Map | rs370595480 |
PheGenI | rs370595480 |
Biobank | rs370595480 |
1000 genomes | rs370595480 |
hgdp | rs370595480 |
ensembl | rs370595480 |
geneview | rs370595480 |
scholar | rs370595480 |
rs370595480 | |
pharmgkb | rs370595480 |
gwascentral | rs370595480 |
openSNP | rs370595480 |
23andMe | rs370595480 |
SNPshot | rs370595480 |
SNPdbe | rs370595480 |
MSV3d | rs370595480 |
GWAS Ctlg | rs370595480 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370595480(A;A) |
Alt | rs370595480(A;A) |
Reference | Rs370595480(G;G) |
Significance | Pathogenic |
Disease | Citrullinemia type I not provided |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.133355803G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000174211.1, RCV000412912.1, |