rs121918011

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

21563219

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs121918011
dbSNP (classic)	rs121918011
ClinGen	rs121918011
ebi	rs121918011
HLI	rs121918011
Exac	rs121918011
Gnomad	rs121918011
Varsome	rs121918011
LitVar	rs121918011
Map	rs121918011
PheGenI	rs121918011
Biobank	rs121918011
1000 genomes	rs121918011
hgdp	rs121918011
ensembl	rs121918011
geneview	rs121918011
scholar	rs121918011
google	rs121918011
pharmgkb	rs121918011
gwascentral	rs121918011
openSNP	rs121918011
23andMe	rs121918011
SNPshot	rs121918011
SNPdbe	rs121918011
MSV3d	rs121918011
GWAS Ctlg	rs121918011

Max Magnitude

4

rs121918011, also known as c.407G>A or p.R136H, 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.

OMIM	171760
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs121918011(A;A)
Alt	Rs121918011(A;A)
Reference	Rs121918011(G;G)
Significance	Pathogenic
Disease	Childhood hypophosphatasia Infantile hypophosphatasia Hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Childhood hypophosphatasia Infantile hypophosphatasia Hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21889712G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014666.26, RCV000169168.1, RCV000364426.1,