rs751930594
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs751930594(A;G) |
Make rs751930594(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 130466723 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs751930594 |
dbSNP (classic) | rs751930594 |
ClinGen | rs751930594 |
ebi | rs751930594 |
HLI | rs751930594 |
Exac | rs751930594 |
Gnomad | rs751930594 |
Varsome | rs751930594 |
LitVar | rs751930594 |
Map | rs751930594 |
PheGenI | rs751930594 |
Biobank | rs751930594 |
1000 genomes | rs751930594 |
hgdp | rs751930594 |
ensembl | rs751930594 |
geneview | rs751930594 |
scholar | rs751930594 |
rs751930594 | |
pharmgkb | rs751930594 |
gwascentral | rs751930594 |
openSNP | rs751930594 |
23andMe | rs751930594 |
SNPshot | rs751930594 |
SNPdbe | rs751930594 |
MSV3d | rs751930594 |
GWAS Ctlg | rs751930594 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751930594(G;G) rs751930594(T;T) |
Alt | rs751930594(G;G) rs751930594(T;T) |
Reference | Rs751930594(A;A) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133342110A>G |
CLNSRC | |
CLNACC | RCV000179704.1, |