rs121918014

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 38.1/141

Chromosome

1

Position

21576582

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918014
dbSNP (classic)	rs121918014
ClinGen	rs121918014
ebi	rs121918014
HLI	rs121918014
Exac	rs121918014
Gnomad	rs121918014
Varsome	rs121918014
LitVar	rs121918014
Map	rs121918014
PheGenI	rs121918014
Biobank	rs121918014
1000 genomes	rs121918014
hgdp	rs121918014
ensembl	rs121918014
geneview	rs121918014
scholar	rs121918014
google	rs121918014
pharmgkb	rs121918014
gwascentral	rs121918014
openSNP	rs121918014
23andMe	rs121918014
SNPshot	rs121918014
SNPdbe	rs121918014
MSV3d	rs121918014
GWAS Ctlg	rs121918014

Max Magnitude

4

rs121918014, also known as c.1250A>G or p.N417S, 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 perinatal form of hypophosphatasia.

OMIM	171760
Desc
Variant	0017
Related	also

ClinVar
Risk	Rs121918014(G;G)
Alt	Rs121918014(G;G)
Reference	Rs121918014(A;A)
Significance	Pathogenic
Disease	Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia Hypophosphatasia, perinatal lethal Adult hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21903075A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014672.27, RCV000169778.2, RCV000362276.1,