rs781264043

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

21561130

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs781264043
dbSNP (classic)	rs781264043
ClinGen	rs781264043
ebi	rs781264043
HLI	rs781264043
Exac	rs781264043
Gnomad	rs781264043
Varsome	rs781264043
LitVar	rs781264043
Map	rs781264043
PheGenI	rs781264043
Biobank	rs781264043
1000 genomes	rs781264043
hgdp	rs781264043
ensembl	rs781264043
geneview	rs781264043
scholar	rs781264043
google	rs781264043
pharmgkb	rs781264043
gwascentral	rs781264043
openSNP	rs781264043
23andMe	rs781264043
SNPshot	rs781264043
SNPdbe	rs781264043
MSV3d	rs781264043
GWAS Ctlg	rs781264043

Max Magnitude

4

rs781264043, also known as c.215T>C or p.I72T, 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 odonto form of hypophosphatasia.

This SNP is referred to as i6006895 by 23andMe.

ClinVar
Risk	Rs781264043(C;C)
Alt	Rs781264043(C;C)
Reference	Rs781264043(T;T)
Significance	Probable-Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21887623T>C
CLNSRC
CLNACC	RCV000169295.1,