rs398123130
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123130(A;G) |
Make rs398123130(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 130470832 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123130 |
dbSNP (classic) | rs398123130 |
ClinGen | rs398123130 |
ebi | rs398123130 |
HLI | rs398123130 |
Exac | rs398123130 |
Gnomad | rs398123130 |
Varsome | rs398123130 |
LitVar | rs398123130 |
Map | rs398123130 |
PheGenI | rs398123130 |
Biobank | rs398123130 |
1000 genomes | rs398123130 |
hgdp | rs398123130 |
ensembl | rs398123130 |
geneview | rs398123130 |
scholar | rs398123130 |
rs398123130 | |
pharmgkb | rs398123130 |
gwascentral | rs398123130 |
openSNP | rs398123130 |
23andMe | rs398123130 |
SNPshot | rs398123130 |
SNPdbe | rs398123130 |
MSV3d | rs398123130 |
GWAS Ctlg | rs398123130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123130(G;G) |
Alt | rs398123130(G;G) |
Reference | Rs398123130(A;A) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133346219A>G |
CLNSRC | ClinVar |
CLNACC | RCV000078020.4, |