rs148405563

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

21570330

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs148405563
dbSNP (classic)	rs148405563
ClinGen	rs148405563
ebi	rs148405563
HLI	rs148405563
Exac	rs148405563
Gnomad	rs148405563
Varsome	rs148405563
LitVar	rs148405563
Map	rs148405563
PheGenI	rs148405563
Biobank	rs148405563
1000 genomes	rs148405563
hgdp	rs148405563
ensembl	rs148405563
geneview	rs148405563
scholar	rs148405563
google	rs148405563
pharmgkb	rs148405563
gwascentral	rs148405563
openSNP	rs148405563
23andMe	rs148405563
SNPshot	rs148405563
SNPdbe	rs148405563
MSV3d	rs148405563
GWAS Ctlg	rs148405563

Max Magnitude

4

rs148405563, also known as c.818C>T or p.T273M, 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 asymptomatic, low BMD form of hypophosphatasia.

ClinVar
Risk	Rs148405563(T;T)
Alt	Rs148405563(T;T)
Reference	Rs148405563(C;C)
Significance	Probable-non-pathogenic
Disease	Hypophosphatasia not specified
Variation	info
Gene	ALPL
CLNDBN	Hypophosphatasia not specified
Reversed	0
HGVS	NC_000001.10:g.21896823C>T
CLNSRC
CLNACC	RCV000263557.1, RCV000376253.1,