rs757771793
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 4 | hypophosphatasia |
(A;G) | 3 | carrier of a hypophosphatasia allele |
(G;G) | 0 | normal |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 21563206 |
Gene | ALPL |
is a | snp |
is | mentioned by |
dbSNP | rs757771793 |
dbSNP (classic) | rs757771793 |
ClinGen | rs757771793 |
ebi | rs757771793 |
HLI | rs757771793 |
Exac | rs757771793 |
Gnomad | rs757771793 |
Varsome | rs757771793 |
LitVar | rs757771793 |
Map | rs757771793 |
PheGenI | rs757771793 |
Biobank | rs757771793 |
1000 genomes | rs757771793 |
hgdp | rs757771793 |
ensembl | rs757771793 |
geneview | rs757771793 |
scholar | rs757771793 |
rs757771793 | |
pharmgkb | rs757771793 |
gwascentral | rs757771793 |
openSNP | rs757771793 |
23andMe | rs757771793 |
SNPshot | rs757771793 |
SNPdbe | rs757771793 |
MSV3d | rs757771793 |
GWAS Ctlg | rs757771793 |
Max Magnitude | 4 |
rs757771793, also known as c.394G>A or p.A132T, is a SNP in the ALPL gene on chromosome 1.
Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the adult form of hypophosphatasia.