rs749544042

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

21564217

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs749544042
dbSNP (classic)	rs749544042
ClinGen	rs749544042
ebi	rs749544042
HLI	rs749544042
Exac	rs749544042
Gnomad	rs749544042
Varsome	rs749544042
LitVar	rs749544042
Map	rs749544042
PheGenI	rs749544042
Biobank	rs749544042
1000 genomes	rs749544042
hgdp	rs749544042
ensembl	rs749544042
geneview	rs749544042
scholar	rs749544042
google	rs749544042
pharmgkb	rs749544042
gwascentral	rs749544042
openSNP	rs749544042
23andMe	rs749544042
SNPshot	rs749544042
SNPdbe	rs749544042
MSV3d	rs749544042
GWAS Ctlg	rs749544042

Max Magnitude

4

rs749544042, also known as c.648+1G>A, 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.

ClinVar
Risk	Rs749544042(A;A)
Alt	Rs749544042(A;A)
Reference	Rs749544042(G;G)
Significance	Pathogenic
Disease	Hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Hypophosphatasia, perinatal lethal
Reversed	0
HGVS	NC_000001.10:g.21890710G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014671.27,