rs886043088
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 9 |
Position | 130494960 |
Gene | ASS1, LOC105376294 |
is a | snp |
is | mentioned by |
dbSNP | rs886043088 |
dbSNP (classic) | rs886043088 |
ClinGen | rs886043088 |
ebi | rs886043088 |
HLI | rs886043088 |
Exac | rs886043088 |
Gnomad | rs886043088 |
Varsome | rs886043088 |
LitVar | rs886043088 |
Map | rs886043088 |
PheGenI | rs886043088 |
Biobank | rs886043088 |
1000 genomes | rs886043088 |
hgdp | rs886043088 |
ensembl | rs886043088 |
geneview | rs886043088 |
scholar | rs886043088 |
rs886043088 | |
pharmgkb | rs886043088 |
gwascentral | rs886043088 |
openSNP | rs886043088 |
23andMe | rs886043088 |
SNPshot | rs886043088 |
SNPdbe | rs886043088 |
MSV3d | rs886043088 |
GWAS Ctlg | rs886043088 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043088(-;-) |
Alt | rs886043088(-;-) |
Reference | Rs886043088(A;A) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133370347delA |
CLNSRC | |
CLNACC | RCV000306977.1, |