rs104894606
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894606(C;C) |
Make rs104894606(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44007772 |
Gene | NAGS, PYY |
is a | snp |
is | mentioned by |
dbSNP | rs104894606 |
dbSNP (classic) | rs104894606 |
ClinGen | rs104894606 |
ebi | rs104894606 |
HLI | rs104894606 |
Exac | rs104894606 |
Gnomad | rs104894606 |
Varsome | rs104894606 |
LitVar | rs104894606 |
Map | rs104894606 |
PheGenI | rs104894606 |
Biobank | rs104894606 |
1000 genomes | rs104894606 |
hgdp | rs104894606 |
ensembl | rs104894606 |
geneview | rs104894606 |
scholar | rs104894606 |
rs104894606 | |
pharmgkb | rs104894606 |
gwascentral | rs104894606 |
openSNP | rs104894606 |
23andMe | rs104894606 |
SNPshot | rs104894606 |
SNPdbe | rs104894606 |
MSV3d | rs104894606 |
GWAS Ctlg | rs104894606 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894606(C;C) rs104894606(G;G) |
Alt | rs104894606(C;C) rs104894606(G;G) |
Reference | Rs104894606(T;T) |
Significance | Pathogenic |
Disease | Hyperammonemia |
Variation | info |
Gene | NAGS |
CLNDBN | Hyperammonemia, type III |
Reversed | 0 |
HGVS | NC_000017.10:g.42085140T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002535.3, |