rs121918002

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	normal
(A;C)	3	carrier of a hypophosphatasia allele
(C;C)	4	hypophosphatasia

Reference

GRCh38 38.1/141

Chromosome

1

Position

21573683

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918002
dbSNP (classic)	rs121918002
ClinGen	rs121918002
ebi	rs121918002
HLI	rs121918002
Exac	rs121918002
Gnomad	rs121918002
Varsome	rs121918002
LitVar	rs121918002
Map	rs121918002
PheGenI	rs121918002
Biobank	rs121918002
1000 genomes	rs121918002
hgdp	rs121918002
ensembl	rs121918002
geneview	rs121918002
scholar	rs121918002
google	rs121918002
pharmgkb	rs121918002
gwascentral	rs121918002
openSNP	rs121918002
23andMe	rs121918002
SNPshot	rs121918002
SNPdbe	rs121918002
MSV3d	rs121918002
GWAS Ctlg	rs121918002

Max Magnitude

4

rs121918002, also known as c.881A>C or p.D294A, 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 i5002773 by 23andMe.

OMIM	171760
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs121918002(C;C)
Alt	Rs121918002(C;C)
Reference	Rs121918002(A;A)
Significance	Pathogenic
Disease	Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia not provided
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia not provided
Reversed	0
HGVS	NC_000001.10:g.21900176A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014650.26, RCV000014651.26, RCV000014652.20, RCV000224505.1,