rs199665722

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.p2 38.2/144

Chromosome

1

Position

21568123

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs199665722
dbSNP (classic)	rs199665722
ClinGen	rs199665722
ebi	rs199665722
HLI	rs199665722
Exac	rs199665722
Gnomad	rs199665722
Varsome	rs199665722
LitVar	rs199665722
Map	rs199665722
PheGenI	rs199665722
Biobank	rs199665722
1000 genomes	rs199665722
hgdp	rs199665722
ensembl	rs199665722
geneview	rs199665722
scholar	rs199665722
google	rs199665722
pharmgkb	rs199665722
gwascentral	rs199665722
openSNP	rs199665722
23andMe	rs199665722
SNPshot	rs199665722
SNPdbe	rs199665722
MSV3d	rs199665722
GWAS Ctlg	rs199665722

Max Magnitude

4

rs199665722, also known as c.668G>A or p.R223Q, 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 perinatal form of hypophosphatasia.

This SNP is referred to as i6006951 by 23andMe.

ClinVar
Risk	Rs199665722(A;A)
Alt	Rs199665722(A;A)
Reference	Rs199665722(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ALPL
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.21894616G>A
CLNSRC
CLNACC	RCV000428517.1,