rs763389916
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs763389916(C;T) |
Make rs763389916(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 130479849 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs763389916 |
dbSNP (classic) | rs763389916 |
ClinGen | rs763389916 |
ebi | rs763389916 |
HLI | rs763389916 |
Exac | rs763389916 |
Gnomad | rs763389916 |
Varsome | rs763389916 |
LitVar | rs763389916 |
Map | rs763389916 |
PheGenI | rs763389916 |
Biobank | rs763389916 |
1000 genomes | rs763389916 |
hgdp | rs763389916 |
ensembl | rs763389916 |
geneview | rs763389916 |
scholar | rs763389916 |
rs763389916 | |
pharmgkb | rs763389916 |
gwascentral | rs763389916 |
openSNP | rs763389916 |
23andMe | rs763389916 |
SNPshot | rs763389916 |
SNPdbe | rs763389916 |
MSV3d | rs763389916 |
GWAS Ctlg | rs763389916 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763389916(T;T) |
Alt | rs763389916(T;T) |
Reference | Rs763389916(C;C) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133355236C>T |
CLNSRC | |
CLNACC | RCV000256264.1, |