rs770362721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(D;D) | 0 | common genotype |
(G;G) | 0 | common in clinvar |
Make rs770362721(-;-) |
Make rs770362721(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 130489386 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs770362721 |
dbSNP (classic) | rs770362721 |
ClinGen | rs770362721 |
ebi | rs770362721 |
HLI | rs770362721 |
Exac | rs770362721 |
Gnomad | rs770362721 |
Varsome | rs770362721 |
LitVar | rs770362721 |
Map | rs770362721 |
PheGenI | rs770362721 |
Biobank | rs770362721 |
1000 genomes | rs770362721 |
hgdp | rs770362721 |
ensembl | rs770362721 |
geneview | rs770362721 |
scholar | rs770362721 |
rs770362721 | |
pharmgkb | rs770362721 |
gwascentral | rs770362721 |
openSNP | rs770362721 |
23andMe | rs770362721 |
SNPshot | rs770362721 |
SNPdbe | rs770362721 |
MSV3d | rs770362721 |
GWAS Ctlg | rs770362721 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770362721(-;-) |
Alt | rs770362721(-;-) |
Reference | Rs770362721(G;G) |
Significance | Probable-Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133364773delG |
CLNSRC | |
CLNACC | RCV000169181.1, |