rs121918003

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

21561127

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918003
dbSNP (classic)	rs121918003
ClinGen	rs121918003
ebi	rs121918003
HLI	rs121918003
Exac	rs121918003
Gnomad	rs121918003
Varsome	rs121918003
LitVar	rs121918003
Map	rs121918003
PheGenI	rs121918003
Biobank	rs121918003
1000 genomes	rs121918003
hgdp	rs121918003
ensembl	rs121918003
geneview	rs121918003
scholar	rs121918003
google	rs121918003
pharmgkb	rs121918003
gwascentral	rs121918003
openSNP	rs121918003
23andMe	rs121918003
SNPshot	rs121918003
SNPdbe	rs121918003
MSV3d	rs121918003
GWAS Ctlg	rs121918003

Max Magnitude

4

rs121918003, also known as c.212G>C or p.R71P, 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 i5002772 by 23andMe.

OMIM	171760
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918003(A;A) Rs121918003(C;C)
Alt	rs121918003(A;A) Rs121918003(C;C)
Reference	Rs121918003(G;G)
Significance	Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21887620G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014653.19,