rs121918004

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

21564188

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918004
dbSNP (classic)	rs121918004
ClinGen	rs121918004
ebi	rs121918004
HLI	rs121918004
Exac	rs121918004
Gnomad	rs121918004
Varsome	rs121918004
LitVar	rs121918004
Map	rs121918004
PheGenI	rs121918004
Biobank	rs121918004
1000 genomes	rs121918004
hgdp	rs121918004
ensembl	rs121918004
geneview	rs121918004
scholar	rs121918004
google	rs121918004
pharmgkb	rs121918004
gwascentral	rs121918004
openSNP	rs121918004
23andMe	rs121918004
SNPshot	rs121918004
SNPdbe	rs121918004
MSV3d	rs121918004
GWAS Ctlg	rs121918004

Max Magnitude

4

rs121918004, also known as c.620A>C or p.Q207P, 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 i5002771 by 23andMe.

OMIM	171760
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs121918004(C;C)
Alt	Rs121918004(C;C)
Reference	Rs121918004(A;A)
Significance	Pathogenic
Disease	Infantile hypophosphatasia not provided
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia not provided
Reversed	0
HGVS	NC_000001.10:g.21890681A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014654.20, RCV000224906.1,