rs1057516338
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516338(-;-) |
Make rs1057516338(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 130494874 |
Gene | ASS1, LOC105376294 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516338 |
dbSNP (classic) | rs1057516338 |
ClinGen | rs1057516338 |
ebi | rs1057516338 |
HLI | rs1057516338 |
Exac | rs1057516338 |
Gnomad | rs1057516338 |
Varsome | rs1057516338 |
LitVar | rs1057516338 |
Map | rs1057516338 |
PheGenI | rs1057516338 |
Biobank | rs1057516338 |
1000 genomes | rs1057516338 |
hgdp | rs1057516338 |
ensembl | rs1057516338 |
geneview | rs1057516338 |
scholar | rs1057516338 |
rs1057516338 | |
pharmgkb | rs1057516338 |
gwascentral | rs1057516338 |
openSNP | rs1057516338 |
23andMe | rs1057516338 |
SNPshot | rs1057516338 |
SNPdbe | rs1057516338 |
MSV3d | rs1057516338 |
GWAS Ctlg | rs1057516338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516338(-;-) |
Alt | rs1057516338(-;-) |
Reference | Rs1057516338(G;G) |
Significance | Probable-Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133370261delG |
CLNSRC | |
CLNACC | RCV000411785.1, |