rs121918001
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 4 | hypophosphatasia |
(A;C) | 3 | carrier of a hypophosphatasia allele |
(C;C) | 0 | normal |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 21561126 |
Gene | ALPL |
is a | snp |
is | mentioned by |
dbSNP | rs121918001 |
dbSNP (classic) | rs121918001 |
ClinGen | rs121918001 |
ebi | rs121918001 |
HLI | rs121918001 |
Exac | rs121918001 |
Gnomad | rs121918001 |
Varsome | rs121918001 |
LitVar | rs121918001 |
Map | rs121918001 |
PheGenI | rs121918001 |
Biobank | rs121918001 |
1000 genomes | rs121918001 |
hgdp | rs121918001 |
ensembl | rs121918001 |
geneview | rs121918001 |
scholar | rs121918001 |
rs121918001 | |
pharmgkb | rs121918001 |
gwascentral | rs121918001 |
openSNP | rs121918001 |
23andMe | rs121918001 |
SNPshot | rs121918001 |
SNPdbe | rs121918001 |
MSV3d | rs121918001 |
GWAS Ctlg | rs121918001 |
Max Magnitude | 4 |
rs121918001, also known as c.211C>A or p.R71S, 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. rs121918001, also known as c.211C>T or p.R71C, 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.
This SNP is referred to as i5002774 by 23andMe.
ClinVar | |
---|---|
Risk | Rs121918001(A;A) Rs121918001(T;T) |
Alt | Rs121918001(A;A) Rs121918001(T;T) |
Reference | Rs121918001(C;C) |
Significance | Pathogenic |
Disease | Infantile hypophosphatasia |
Variation | info |
Gene | ALPL |
CLNDBN | Infantile hypophosphatasia |
Reversed | 0 |
HGVS | NC_000001.10:g.21887619C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014649.25, |