rs982830431
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 130479801 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs982830431 |
dbSNP (classic) | rs982830431 |
ClinGen | rs982830431 |
ebi | rs982830431 |
HLI | rs982830431 |
Exac | rs982830431 |
Gnomad | rs982830431 |
Varsome | rs982830431 |
LitVar | rs982830431 |
Map | rs982830431 |
PheGenI | rs982830431 |
Biobank | rs982830431 |
1000 genomes | rs982830431 |
hgdp | rs982830431 |
ensembl | rs982830431 |
geneview | rs982830431 |
scholar | rs982830431 |
rs982830431 | |
pharmgkb | rs982830431 |
gwascentral | rs982830431 |
openSNP | rs982830431 |
23andMe | rs982830431 |
SNPshot | rs982830431 |
SNPdbe | rs982830431 |
MSV3d | rs982830431 |
GWAS Ctlg | rs982830431 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs982830431(A;A) |
Alt | rs982830431(A;A) |
Reference | Rs982830431(G;G) |
Significance | Probable-Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133355188G>A |
CLNSRC | |
CLNACC | RCV000410118.1, |