rs763244290
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 4 | hypophosphatasia |
(-;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 0 | normal |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 21560692 |
Gene | ALPL |
is a | snp |
is | mentioned by |
dbSNP | rs763244290 |
dbSNP (classic) | rs763244290 |
ClinGen | rs763244290 |
ebi | rs763244290 |
HLI | rs763244290 |
Exac | rs763244290 |
Gnomad | rs763244290 |
Varsome | rs763244290 |
LitVar | rs763244290 |
Map | rs763244290 |
PheGenI | rs763244290 |
Biobank | rs763244290 |
1000 genomes | rs763244290 |
hgdp | rs763244290 |
ensembl | rs763244290 |
geneview | rs763244290 |
scholar | rs763244290 |
rs763244290 | |
pharmgkb | rs763244290 |
gwascentral | rs763244290 |
openSNP | rs763244290 |
23andMe | rs763244290 |
SNPshot | rs763244290 |
SNPdbe | rs763244290 |
MSV3d | rs763244290 |
GWAS Ctlg | rs763244290 |
Max Magnitude | 4 |
rs763244290, also known as c.129delT or p.Q44RfsX23, 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 childhood form of hypophosphatasia.