rs875989801
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTA;GTA) | 0 | common in clinvar |
Make rs875989801(GTA;TT) |
Make rs875989801(TT;TT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 24528167 |
Gene | ALDH5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs875989801 |
dbSNP (classic) | rs875989801 |
ClinGen | rs875989801 |
ebi | rs875989801 |
HLI | rs875989801 |
Exac | rs875989801 |
Gnomad | rs875989801 |
Varsome | rs875989801 |
LitVar | rs875989801 |
Map | rs875989801 |
PheGenI | rs875989801 |
Biobank | rs875989801 |
1000 genomes | rs875989801 |
hgdp | rs875989801 |
ensembl | rs875989801 |
geneview | rs875989801 |
scholar | rs875989801 |
rs875989801 | |
pharmgkb | rs875989801 |
gwascentral | rs875989801 |
openSNP | rs875989801 |
23andMe | rs875989801 |
SNPshot | rs875989801 |
SNPdbe | rs875989801 |
MSV3d | rs875989801 |
GWAS Ctlg | rs875989801 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989801(TT;TT) |
Alt | rs875989801(TT;TT) |
Reference | Rs875989801(GTA;GTA) |
Significance | Pathogenic |
Disease | Succinate-semialdehyde dehydrogenase deficiency |
Variation | info |
Gene | ALDH5A1 |
CLNDBN | Succinate-semialdehyde dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.24528395_24528397delGTAinsTT |
CLNSRC | |
CLNACC | RCV000211103.1, |