rs372128852
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs372128852(A;A) |
Make rs372128852(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 130489469 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs372128852 |
dbSNP (classic) | rs372128852 |
ClinGen | rs372128852 |
ebi | rs372128852 |
HLI | rs372128852 |
Exac | rs372128852 |
Gnomad | rs372128852 |
Varsome | rs372128852 |
LitVar | rs372128852 |
Map | rs372128852 |
PheGenI | rs372128852 |
Biobank | rs372128852 |
1000 genomes | rs372128852 |
hgdp | rs372128852 |
ensembl | rs372128852 |
geneview | rs372128852 |
scholar | rs372128852 |
rs372128852 | |
pharmgkb | rs372128852 |
gwascentral | rs372128852 |
openSNP | rs372128852 |
23andMe | rs372128852 |
SNPshot | rs372128852 |
SNPdbe | rs372128852 |
MSV3d | rs372128852 |
GWAS Ctlg | rs372128852 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372128852(A;A) |
Alt | rs372128852(A;A) |
Reference | Rs372128852(G;G) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133364856G>A |
CLNSRC | |
CLNACC | RCV000256315.1, RCV000256325.1, |