rs777829351
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs777829351(C;C) |
Make rs777829351(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 126575451 |
Gene | ALDH7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs777829351 |
dbSNP (classic) | rs777829351 |
ClinGen | rs777829351 |
ebi | rs777829351 |
HLI | rs777829351 |
Exac | rs777829351 |
Gnomad | rs777829351 |
Varsome | rs777829351 |
LitVar | rs777829351 |
Map | rs777829351 |
PheGenI | rs777829351 |
Biobank | rs777829351 |
1000 genomes | rs777829351 |
hgdp | rs777829351 |
ensembl | rs777829351 |
geneview | rs777829351 |
scholar | rs777829351 |
rs777829351 | |
pharmgkb | rs777829351 |
gwascentral | rs777829351 |
openSNP | rs777829351 |
23andMe | rs777829351 |
SNPshot | rs777829351 |
SNPdbe | rs777829351 |
MSV3d | rs777829351 |
GWAS Ctlg | rs777829351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777829351(C;C) |
Alt | rs777829351(C;C) |
Reference | Rs777829351(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided Pyridoxine-dependent epilepsy |
Variation | info |
Gene | ALDH7A1 |
CLNDBN | not provided Pyridoxine-dependent epilepsy |
Reversed | 0 |
HGVS | NC_000005.9:g.125911143T>C |
CLNSRC | |
CLNACC | RCV000186729.2, RCV000466667.1, |