rs746390776

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

21575901

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs746390776
dbSNP (classic)	rs746390776
ClinGen	rs746390776
ebi	rs746390776
HLI	rs746390776
Exac	rs746390776
Gnomad	rs746390776
Varsome	rs746390776
LitVar	rs746390776
Map	rs746390776
PheGenI	rs746390776
Biobank	rs746390776
1000 genomes	rs746390776
hgdp	rs746390776
ensembl	rs746390776
geneview	rs746390776
scholar	rs746390776
google	rs746390776
pharmgkb	rs746390776
gwascentral	rs746390776
openSNP	rs746390776
23andMe	rs746390776
SNPshot	rs746390776
SNPdbe	rs746390776
MSV3d	rs746390776
GWAS Ctlg	rs746390776

Max Magnitude

4

rs746390776, also known as c.1166C>A or p.T389N, 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.