rs121918009

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 38.1/141

Chromosome

1

Position

21575736

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918009
dbSNP (classic)	rs121918009
ClinGen	rs121918009
ebi	rs121918009
HLI	rs121918009
Exac	rs121918009
Gnomad	rs121918009
Varsome	rs121918009
LitVar	rs121918009
Map	rs121918009
PheGenI	rs121918009
Biobank	rs121918009
1000 genomes	rs121918009
hgdp	rs121918009
ensembl	rs121918009
geneview	rs121918009
scholar	rs121918009
google	rs121918009
pharmgkb	rs121918009
gwascentral	rs121918009
openSNP	rs121918009
23andMe	rs121918009
SNPshot	rs121918009
SNPdbe	rs121918009
MSV3d	rs121918009
GWAS Ctlg	rs121918009

Max Magnitude

4

rs121918009, also known as c.1001G>A or p.G334D, 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.

This SNP is referred to as i5002766 by 23andMe.

OMIM	171760
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs121918009(A;A)
Alt	Rs121918009(A;A)
Reference	Rs121918009(G;G)
Significance	Other
Disease	Infantile hypophosphatasia Hypophosphatasia not provided
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia Hypophosphatasia not provided
Reversed	0
HGVS	NC_000001.10:g.21902229G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014663.27, RCV000207270.1, RCV000224376.1,