rs150799088
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 | 21577422 |
Gene | ALPL |
is a | snp |
is | mentioned by |
dbSNP | rs150799088 |
dbSNP (classic) | rs150799088 |
ClinGen | rs150799088 |
ebi | rs150799088 |
HLI | rs150799088 |
Exac | rs150799088 |
Gnomad | rs150799088 |
Varsome | rs150799088 |
LitVar | rs150799088 |
Map | rs150799088 |
PheGenI | rs150799088 |
Biobank | rs150799088 |
1000 genomes | rs150799088 |
hgdp | rs150799088 |
ensembl | rs150799088 |
geneview | rs150799088 |
scholar | rs150799088 |
rs150799088 | |
pharmgkb | rs150799088 |
gwascentral | rs150799088 |
openSNP | rs150799088 |
23andMe | rs150799088 |
SNPshot | rs150799088 |
SNPdbe | rs150799088 |
MSV3d | rs150799088 |
GWAS Ctlg | rs150799088 |
Max Magnitude | 4 |
rs150799088, also known as c.1349G>A or p.R450H, 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 i6006940 by 23andMe.
ClinVar | |
---|---|
Risk | Rs150799088(A;A) |
Alt | Rs150799088(A;A) |
Reference | Rs150799088(G;G) |
Significance | Unknown |
Disease | not specified |
Variation | info |
Gene | ALPL |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.21903915G>A |
CLNSRC | |
CLNACC | RCV000494080.1, |