rs149889416

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 38.2/144

Chromosome

1

Position

21577436

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs149889416
dbSNP (classic)	rs149889416
ClinGen	rs149889416
ebi	rs149889416
HLI	rs149889416
Exac	rs149889416
Gnomad	rs149889416
Varsome	rs149889416
LitVar	rs149889416
Map	rs149889416
PheGenI	rs149889416
Biobank	rs149889416
1000 genomes	rs149889416
hgdp	rs149889416
ensembl	rs149889416
geneview	rs149889416
scholar	rs149889416
google	rs149889416
pharmgkb	rs149889416
gwascentral	rs149889416
openSNP	rs149889416
23andMe	rs149889416
SNPshot	rs149889416
SNPdbe	rs149889416
MSV3d	rs149889416
GWAS Ctlg	rs149889416

Max Magnitude

4

rs149889416, also known as c.1363G>A or p.G455S, 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 adult form of hypophosphatasia.

This SNP is referred to as i6006953 by 23andMe.

ClinVar
Risk	Rs149889416(A;A)
Alt	Rs149889416(A;A)
Reference	Rs149889416(G;G)
Significance	Probable-Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21903929G>A
CLNSRC
CLNACC	RCV000411942.1,