rs765011829
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 4 | hypophosphatasia |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 0 | normal |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 21564143 |
Gene | ALPL |
is a | snp |
is | mentioned by |
dbSNP | rs765011829 |
dbSNP (classic) | rs765011829 |
ClinGen | rs765011829 |
ebi | rs765011829 |
HLI | rs765011829 |
Exac | rs765011829 |
Gnomad | rs765011829 |
Varsome | rs765011829 |
LitVar | rs765011829 |
Map | rs765011829 |
PheGenI | rs765011829 |
Biobank | rs765011829 |
1000 genomes | rs765011829 |
hgdp | rs765011829 |
ensembl | rs765011829 |
geneview | rs765011829 |
scholar | rs765011829 |
rs765011829 | |
pharmgkb | rs765011829 |
gwascentral | rs765011829 |
openSNP | rs765011829 |
23andMe | rs765011829 |
SNPshot | rs765011829 |
SNPdbe | rs765011829 |
MSV3d | rs765011829 |
GWAS Ctlg | rs765011829 |
Max Magnitude | 4 |
rs765011829, also known as c.575T>C or p.M192T, 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 infantile form of hypophosphatasia.