rs121918013

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

21563158

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918013
dbSNP (classic)	rs121918013
ClinGen	rs121918013
ebi	rs121918013
HLI	rs121918013
Exac	rs121918013
Gnomad	rs121918013
Varsome	rs121918013
LitVar	rs121918013
Map	rs121918013
PheGenI	rs121918013
Biobank	rs121918013
1000 genomes	rs121918013
hgdp	rs121918013
ensembl	rs121918013
geneview	rs121918013
scholar	rs121918013
google	rs121918013
pharmgkb	rs121918013
gwascentral	rs121918013
openSNP	rs121918013
23andMe	rs121918013
SNPshot	rs121918013
SNPdbe	rs121918013
MSV3d	rs121918013
GWAS Ctlg	rs121918013

Merged from

Rs28933974

Max Magnitude

4

rs121918013, also known as c.346G>A or p.A116T, 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 adult form of hypophosphatasia.

This SNP is referred to as i6006946 by 23andMe.

OMIM	171760
Desc
Variant	0015
Related	also

ClinVar
Risk	Rs121918013(A;A)
Alt	Rs121918013(A;A)
Reference	Rs121918013(G;G)
Significance	Pathogenic
Disease	Childhood hypophosphatasia Adult hypophosphatasia Odontohypophosphatasia Infantile hypophosphatasia not provided
Variation	info
Gene	ALPL
CLNDBN	Childhood hypophosphatasia Adult hypophosphatasia Odontohypophosphatasia Infantile hypophosphatasia not provided
Reversed	0
HGVS	NC_000001.10:g.21889651G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014668.19, RCV000014669.25, RCV000014670.19, RCV000169426.1, RCV000224118.1,