rs121918008

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

21575868

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918008
dbSNP (classic)	rs121918008
ClinGen	rs121918008
ebi	rs121918008
HLI	rs121918008
Exac	rs121918008
Gnomad	rs121918008
Varsome	rs121918008
LitVar	rs121918008
Map	rs121918008
PheGenI	rs121918008
Biobank	rs121918008
1000 genomes	rs121918008
hgdp	rs121918008
ensembl	rs121918008
geneview	rs121918008
scholar	rs121918008
google	rs121918008
pharmgkb	rs121918008
gwascentral	rs121918008
openSNP	rs121918008
23andMe	rs121918008
SNPshot	rs121918008
SNPdbe	rs121918008
MSV3d	rs121918008
GWAS Ctlg	rs121918008

Max Magnitude

4

rs121918008, also known as c.1133A>T or p.D378V, 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 i5012683 by 23andMe.

OMIM	171760
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs121918008(T;T)
Alt	Rs121918008(T;T)
Reference	Rs121918008(A;A)
Significance	Pathogenic
Disease	Infantile hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided
Reversed	0
HGVS	NC_000001.10:g.21902361A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014661.27, RCV000014662.27, RCV000207084.1, RCV000224520.1,