rs121918010

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

21573781

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918010
dbSNP (classic)	rs121918010
ClinGen	rs121918010
ebi	rs121918010
HLI	rs121918010
Exac	rs121918010
Gnomad	rs121918010
Varsome	rs121918010
LitVar	rs121918010
Map	rs121918010
PheGenI	rs121918010
Biobank	rs121918010
1000 genomes	rs121918010
hgdp	rs121918010
ensembl	rs121918010
geneview	rs121918010
scholar	rs121918010
google	rs121918010
pharmgkb	rs121918010
gwascentral	rs121918010
openSNP	rs121918010
23andMe	rs121918010
SNPshot	rs121918010
SNPdbe	rs121918010
MSV3d	rs121918010
GWAS Ctlg	rs121918010

Max Magnitude

4

rs121918010, also known as c.979T>C or p.F327L, 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 i5002765 by 23andMe.

OMIM	171760
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs121918010(C;C)
Alt	Rs121918010(C;C)
Reference	Rs121918010(T;T)
Significance	Other
Disease	Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21900274T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014664.26, RCV000207096.1, RCV000380876.1,