rs730880266
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880266(-;-) |
Make rs730880266(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 44006638 |
Gene | NAGS, PYY |
is a | snp |
is | mentioned by |
dbSNP | rs730880266 |
dbSNP (classic) | rs730880266 |
ClinGen | rs730880266 |
ebi | rs730880266 |
HLI | rs730880266 |
Exac | rs730880266 |
Gnomad | rs730880266 |
Varsome | rs730880266 |
LitVar | rs730880266 |
Map | rs730880266 |
PheGenI | rs730880266 |
Biobank | rs730880266 |
1000 genomes | rs730880266 |
hgdp | rs730880266 |
ensembl | rs730880266 |
geneview | rs730880266 |
scholar | rs730880266 |
rs730880266 | |
pharmgkb | rs730880266 |
gwascentral | rs730880266 |
openSNP | rs730880266 |
23andMe | rs730880266 |
SNPshot | rs730880266 |
SNPdbe | rs730880266 |
MSV3d | rs730880266 |
GWAS Ctlg | rs730880266 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880266(-;-) |
Alt | rs730880266(-;-) |
Reference | Rs730880266(G;G) |
Significance | Pathogenic |
Disease | Hyperammonemia |
Variation | info |
Gene | NAGS |
CLNDBN | Hyperammonemia, type III |
Reversed | 0 |
HGVS | NC_000017.10:g.42084006delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002529.3, |