rs773257111
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 | 21563143 |
Gene | ALPL |
is a | snp |
is | mentioned by |
dbSNP | rs773257111 |
dbSNP (classic) | rs773257111 |
ClinGen | rs773257111 |
ebi | rs773257111 |
HLI | rs773257111 |
Exac | rs773257111 |
Gnomad | rs773257111 |
Varsome | rs773257111 |
LitVar | rs773257111 |
Map | rs773257111 |
PheGenI | rs773257111 |
Biobank | rs773257111 |
1000 genomes | rs773257111 |
hgdp | rs773257111 |
ensembl | rs773257111 |
geneview | rs773257111 |
scholar | rs773257111 |
rs773257111 | |
pharmgkb | rs773257111 |
gwascentral | rs773257111 |
openSNP | rs773257111 |
23andMe | rs773257111 |
SNPshot | rs773257111 |
SNPdbe | rs773257111 |
MSV3d | rs773257111 |
GWAS Ctlg | rs773257111 |
Max Magnitude | 4 |
rs773257111, also known as c.331G>A or p.A111T, 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 odonto form of hypophosphatasia.
This SNP is referred to as i6006944 by 23andMe.