rs786204460
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204460(C;T) |
Make rs786204460(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 130499515 |
Gene | ASS1, LOC105376294 |
is a | snp |
is | mentioned by |
dbSNP | rs786204460 |
dbSNP (classic) | rs786204460 |
ClinGen | rs786204460 |
ebi | rs786204460 |
HLI | rs786204460 |
Exac | rs786204460 |
Gnomad | rs786204460 |
Varsome | rs786204460 |
LitVar | rs786204460 |
Map | rs786204460 |
PheGenI | rs786204460 |
Biobank | rs786204460 |
1000 genomes | rs786204460 |
hgdp | rs786204460 |
ensembl | rs786204460 |
geneview | rs786204460 |
scholar | rs786204460 |
rs786204460 | |
pharmgkb | rs786204460 |
gwascentral | rs786204460 |
openSNP | rs786204460 |
23andMe | rs786204460 |
SNPshot | rs786204460 |
SNPdbe | rs786204460 |
MSV3d | rs786204460 |
GWAS Ctlg | rs786204460 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204460(T;T) |
Alt | rs786204460(T;T) |
Reference | Rs786204460(C;C) |
Significance | Probable-Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133374902C>T |
CLNSRC | |
CLNACC | RCV000169103.1, |