rs121434578
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434578(A;A) |
Make rs121434578(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 8768248 |
Gene | ABAT |
is a | snp |
is | mentioned by |
dbSNP | rs121434578 |
dbSNP (classic) | rs121434578 |
ClinGen | rs121434578 |
ebi | rs121434578 |
HLI | rs121434578 |
Exac | rs121434578 |
Gnomad | rs121434578 |
Varsome | rs121434578 |
LitVar | rs121434578 |
Map | rs121434578 |
PheGenI | rs121434578 |
Biobank | rs121434578 |
1000 genomes | rs121434578 |
hgdp | rs121434578 |
ensembl | rs121434578 |
geneview | rs121434578 |
scholar | rs121434578 |
rs121434578 | |
pharmgkb | rs121434578 |
gwascentral | rs121434578 |
openSNP | rs121434578 |
23andMe | rs121434578 |
SNPshot | rs121434578 |
SNPdbe | rs121434578 |
MSV3d | rs121434578 |
GWAS Ctlg | rs121434578 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434578(A;A) |
Alt | rs121434578(A;A) |
Reference | Rs121434578(G;G) |
Significance | Pathogenic |
Disease | Gamma-aminobutyric acid transaminase deficiency |
Variation | info |
Gene | ABAT |
CLNDBN | Gamma-aminobutyric acid transaminase deficiency |
Reversed | 0 |
HGVS | NC_000016.9:g.8862105G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017603.27, |