rs575001023
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs575001023(A;A) |
Make rs575001023(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 130458483 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs575001023 |
dbSNP (classic) | rs575001023 |
ClinGen | rs575001023 |
ebi | rs575001023 |
HLI | rs575001023 |
Exac | rs575001023 |
Gnomad | rs575001023 |
Varsome | rs575001023 |
LitVar | rs575001023 |
Map | rs575001023 |
PheGenI | rs575001023 |
Biobank | rs575001023 |
1000 genomes | rs575001023 |
hgdp | rs575001023 |
ensembl | rs575001023 |
geneview | rs575001023 |
scholar | rs575001023 |
rs575001023 | |
pharmgkb | rs575001023 |
gwascentral | rs575001023 |
openSNP | rs575001023 |
23andMe | rs575001023 |
SNPshot | rs575001023 |
SNPdbe | rs575001023 |
MSV3d | rs575001023 |
GWAS Ctlg | rs575001023 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs575001023(A;A) |
Alt | rs575001023(A;A) |
Reference | Rs575001023(G;G) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133333870G>A |
CLNSRC | |
CLNACC | RCV000256238.1, |