rs34810399

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

21577454

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs34810399
dbSNP (classic)	rs34810399
ClinGen	rs34810399
ebi	rs34810399
HLI	rs34810399
Exac	rs34810399
Gnomad	rs34810399
Varsome	rs34810399
LitVar	rs34810399
Map	rs34810399
PheGenI	rs34810399
Biobank	rs34810399
1000 genomes	rs34810399
hgdp	rs34810399
ensembl	rs34810399
geneview	rs34810399
scholar	rs34810399
google	rs34810399
pharmgkb	rs34810399
gwascentral	rs34810399
openSNP	rs34810399
23andMe	rs34810399
SNPshot	rs34810399
SNPdbe	rs34810399
MSV3d	rs34810399
GWAS Ctlg	rs34810399

Max Magnitude

4

rs34810399, also known as c.1381G>A or p.V461I, 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 asymptomatic, low BMD form of hypophosphatasia.

ClinVar
Risk	Rs34810399(A;A)
Alt	Rs34810399(A;A)
Reference	Rs34810399(G;G)
Significance	Probable-non-pathogenic
Disease	Hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21903947G>A
CLNSRC
CLNACC	RCV000390811.1,