rs199751308
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199751308(A;G) |
Make rs199751308(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 130489423 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs199751308 |
dbSNP (classic) | rs199751308 |
ClinGen | rs199751308 |
ebi | rs199751308 |
HLI | rs199751308 |
Exac | rs199751308 |
Gnomad | rs199751308 |
Varsome | rs199751308 |
LitVar | rs199751308 |
Map | rs199751308 |
PheGenI | rs199751308 |
Biobank | rs199751308 |
1000 genomes | rs199751308 |
hgdp | rs199751308 |
ensembl | rs199751308 |
geneview | rs199751308 |
scholar | rs199751308 |
rs199751308 | |
pharmgkb | rs199751308 |
gwascentral | rs199751308 |
openSNP | rs199751308 |
23andMe | rs199751308 |
SNPshot | rs199751308 |
SNPdbe | rs199751308 |
MSV3d | rs199751308 |
GWAS Ctlg | rs199751308 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199751308(G;G) |
Alt | rs199751308(G;G) |
Reference | Rs199751308(A;A) |
Significance | Probable-Pathogenic |
Disease | Citrullinemia type I not provided |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.133364810A>G |
CLNSRC | |
CLNACC | RCV000286574.1, RCV000413247.1, |