rs786204634

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 38.2/146

Chromosome

1

Position

21570321

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs786204634
dbSNP (classic)	rs786204634
ClinGen	rs786204634
ebi	rs786204634
HLI	rs786204634
Exac	rs786204634
Gnomad	rs786204634
Varsome	rs786204634
LitVar	rs786204634
Map	rs786204634
PheGenI	rs786204634
Biobank	rs786204634
1000 genomes	rs786204634
hgdp	rs786204634
ensembl	rs786204634
geneview	rs786204634
scholar	rs786204634
google	rs786204634
pharmgkb	rs786204634
gwascentral	rs786204634
openSNP	rs786204634
23andMe	rs786204634
SNPshot	rs786204634
SNPdbe	rs786204634
MSV3d	rs786204634
GWAS Ctlg	rs786204634

Max Magnitude

4

rs786204634, also known as c.809G>A or p.W270X, 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.

This SNP is referred to as i6007032 by 23andMe.

ClinVar
Risk	Rs786204634(A;A)
Alt	Rs786204634(A;A)
Reference	Rs786204634(G;G)
Significance	Probable-Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21896814G>A
CLNSRC
CLNACC	RCV000169412.1,