rs121912591
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912591(A;A) |
Make rs121912591(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44006157 |
Gene | NAGS, PYY |
is a | snp |
is | mentioned by |
dbSNP | rs121912591 |
dbSNP (classic) | rs121912591 |
ClinGen | rs121912591 |
ebi | rs121912591 |
HLI | rs121912591 |
Exac | rs121912591 |
Gnomad | rs121912591 |
Varsome | rs121912591 |
LitVar | rs121912591 |
Map | rs121912591 |
PheGenI | rs121912591 |
Biobank | rs121912591 |
1000 genomes | rs121912591 |
hgdp | rs121912591 |
ensembl | rs121912591 |
geneview | rs121912591 |
scholar | rs121912591 |
rs121912591 | |
pharmgkb | rs121912591 |
gwascentral | rs121912591 |
openSNP | rs121912591 |
23andMe | rs121912591 |
SNPshot | rs121912591 |
SNPdbe | rs121912591 |
MSV3d | rs121912591 |
GWAS Ctlg | rs121912591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912591(A;A) |
Alt | rs121912591(A;A) |
Reference | Rs121912591(G;G) |
Significance | Pathogenic |
Disease | Hyperammonemia |
Variation | info |
Gene | PYY NAGS |
CLNDBN | Hyperammonemia, type III |
Reversed | 0 |
HGVS | NC_000017.10:g.42083525G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002533.3, |