rs755529290

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

21573693

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs755529290
dbSNP (classic)	rs755529290
ClinGen	rs755529290
ebi	rs755529290
HLI	rs755529290
Exac	rs755529290
Gnomad	rs755529290
Varsome	rs755529290
LitVar	rs755529290
Map	rs755529290
PheGenI	rs755529290
Biobank	rs755529290
1000 genomes	rs755529290
hgdp	rs755529290
ensembl	rs755529290
geneview	rs755529290
scholar	rs755529290
google	rs755529290
pharmgkb	rs755529290
gwascentral	rs755529290
openSNP	rs755529290
23andMe	rs755529290
SNPshot	rs755529290
SNPdbe	rs755529290
MSV3d	rs755529290
GWAS Ctlg	rs755529290

Max Magnitude

4

rs755529290, also known as c.891C>A or p.Y297X, 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 Infantile form of hypophosphatasia.

ClinVar
Risk	Rs755529290(A;A)
Alt	Rs755529290(A;A)
Reference	Rs755529290(C;C)
Significance	Probable-Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21900186C>A
CLNSRC
CLNACC	RCV000169514.1,