rs786204442

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 38.2/146

Chromosome

1

Position

21568246

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs786204442
dbSNP (classic)	rs786204442
ClinGen	rs786204442
ebi	rs786204442
HLI	rs786204442
Exac	rs786204442
Gnomad	rs786204442
Varsome	rs786204442
LitVar	rs786204442
Map	rs786204442
PheGenI	rs786204442
Biobank	rs786204442
1000 genomes	rs786204442
hgdp	rs786204442
ensembl	rs786204442
geneview	rs786204442
scholar	rs786204442
google	rs786204442
pharmgkb	rs786204442
gwascentral	rs786204442
openSNP	rs786204442
23andMe	rs786204442
SNPshot	rs786204442
SNPdbe	rs786204442
MSV3d	rs786204442
GWAS Ctlg	rs786204442

Max Magnitude

4

rs786204442, also known as c.791A>G or p.K264R, 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.

ClinVar
Risk	Rs786204442(G;G)
Alt	Rs786204442(G;G)
Reference	Rs786204442(A;A)
Significance	Probable-Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21894739A>G
CLNSRC
CLNACC	RCV000169064.1,