i5002774

Gene (via rs)

Gene

Chromosome

1

Position

21887619

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

alias

Rs_StabilizedOrientation

plus

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

i5002774, also known as c.211C>T or p.R71C, 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.