rs886039853
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886039853(C;T) |
Make rs886039853(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 130489345 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039853 |
dbSNP (classic) | rs886039853 |
ClinGen | rs886039853 |
ebi | rs886039853 |
HLI | rs886039853 |
Exac | rs886039853 |
Gnomad | rs886039853 |
Varsome | rs886039853 |
LitVar | rs886039853 |
Map | rs886039853 |
PheGenI | rs886039853 |
Biobank | rs886039853 |
1000 genomes | rs886039853 |
hgdp | rs886039853 |
ensembl | rs886039853 |
geneview | rs886039853 |
scholar | rs886039853 |
rs886039853 | |
pharmgkb | rs886039853 |
gwascentral | rs886039853 |
openSNP | rs886039853 |
23andMe | rs886039853 |
SNPshot | rs886039853 |
SNPdbe | rs886039853 |
MSV3d | rs886039853 |
GWAS Ctlg | rs886039853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039853(T;T) |
Alt | rs886039853(T;T) |
Reference | Rs886039853(C;C) |
Significance | Pathogenic |
Disease | Citrullinemia type I |
Variation | info |
Gene | ASS1 |
CLNDBN | Citrullinemia type I |
Reversed | 0 |
HGVS | NC_000009.11:g.133364732C>T |
CLNSRC | |
CLNACC | RCV000256276.1, |