rs121918001

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

21561126

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918001
dbSNP (classic)	rs121918001
ClinGen	rs121918001
ebi	rs121918001
HLI	rs121918001
Exac	rs121918001
Gnomad	rs121918001
Varsome	rs121918001
LitVar	rs121918001
Map	rs121918001
PheGenI	rs121918001
Biobank	rs121918001
1000 genomes	rs121918001
hgdp	rs121918001
ensembl	rs121918001
geneview	rs121918001
scholar	rs121918001
google	rs121918001
pharmgkb	rs121918001
gwascentral	rs121918001
openSNP	rs121918001
23andMe	rs121918001
SNPshot	rs121918001
SNPdbe	rs121918001
MSV3d	rs121918001
GWAS Ctlg	rs121918001

Max Magnitude

4

rs121918001, also known as c.211C>A or p.R71S, 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 childhood form of hypophosphatasia. rs121918001, also known as c.211C>T or p.R71C, 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.

This SNP is referred to as i5002774 by 23andMe.

OMIM	171760
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs121918001(A;A) Rs121918001(T;T)
Alt	Rs121918001(A;A) Rs121918001(T;T)
Reference	Rs121918001(C;C)
Significance	Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21887619C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014649.25,