rs786204537
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(T;T) | 0 | Ancestry miscall in all likelihood |
Make rs786204537(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 130494926 |
Gene | ASS1, LOC105376294 |
is a | snp |
is | mentioned by |
dbSNP | rs786204537 |
dbSNP (classic) | rs786204537 |
ClinGen | rs786204537 |
ebi | rs786204537 |
HLI | rs786204537 |
Exac | rs786204537 |
Gnomad | rs786204537 |
Varsome | rs786204537 |
LitVar | rs786204537 |
Map | rs786204537 |
PheGenI | rs786204537 |
Biobank | rs786204537 |
1000 genomes | rs786204537 |
hgdp | rs786204537 |
ensembl | rs786204537 |
geneview | rs786204537 |
scholar | rs786204537 |
rs786204537 | |
pharmgkb | rs786204537 |
gwascentral | rs786204537 |
openSNP | rs786204537 |
23andMe | rs786204537 |
SNPshot | rs786204537 |
SNPdbe | rs786204537 |
MSV3d | rs786204537 |
GWAS Ctlg | rs786204537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs786204537(T;T) |
Alt | Rs786204537(T;T) |
Reference | Rs786204537(C;C) |
Significance | Probable-Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133370313C>T |
CLNSRC | |
CLNACC | RCV000169239.1, |