rs772682471
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | normal |
(A;G) | 3 | carrier of a hypophosphatasia allele |
(G;G) | 4 | hypophosphatasia |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 21575918 |
Gene | ALPL |
is a | snp |
is | mentioned by |
dbSNP | rs772682471 |
dbSNP (classic) | rs772682471 |
ClinGen | rs772682471 |
ebi | rs772682471 |
HLI | rs772682471 |
Exac | rs772682471 |
Gnomad | rs772682471 |
Varsome | rs772682471 |
LitVar | rs772682471 |
Map | rs772682471 |
PheGenI | rs772682471 |
Biobank | rs772682471 |
1000 genomes | rs772682471 |
hgdp | rs772682471 |
ensembl | rs772682471 |
geneview | rs772682471 |
scholar | rs772682471 |
rs772682471 | |
pharmgkb | rs772682471 |
gwascentral | rs772682471 |
openSNP | rs772682471 |
23andMe | rs772682471 |
SNPshot | rs772682471 |
SNPdbe | rs772682471 |
MSV3d | rs772682471 |
GWAS Ctlg | rs772682471 |
Max Magnitude | 4 |
rs772682471, also known as c.1183A>G or p.I395V, 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 prenatal benign form of hypophosphatasia.