rs754449549
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs754449549(C;T) |
Make rs754449549(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 126559244 |
Gene | ALDH7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs754449549 |
dbSNP (classic) | rs754449549 |
ClinGen | rs754449549 |
ebi | rs754449549 |
HLI | rs754449549 |
Exac | rs754449549 |
Gnomad | rs754449549 |
Varsome | rs754449549 |
LitVar | rs754449549 |
Map | rs754449549 |
PheGenI | rs754449549 |
Biobank | rs754449549 |
1000 genomes | rs754449549 |
hgdp | rs754449549 |
ensembl | rs754449549 |
geneview | rs754449549 |
scholar | rs754449549 |
rs754449549 | |
pharmgkb | rs754449549 |
gwascentral | rs754449549 |
openSNP | rs754449549 |
23andMe | rs754449549 |
SNPshot | rs754449549 |
SNPdbe | rs754449549 |
MSV3d | rs754449549 |
GWAS Ctlg | rs754449549 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754449549(T;T) |
Alt | rs754449549(T;T) |
Reference | Rs754449549(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ALDH7A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.125894936C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186728.2, |