i6007004
From SNPedia
23andMe data | I6007004 |
23andMe search | I6007004 |
opensnp | I6007004 |
Gene (via rs) | ALPL |
iGeno | Mag | Summary |
---|---|---|
(G;G) | 0 | normal |
(G;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
alias | rs745830614 |
Rs_StabilizedOrientation | plus |
RsGeno | Mag | Summary |
---|---|---|
(G;G) | 0 | normal |
(G;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
i6007004, also known as c.977G>T or p.G326V, 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.