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rs759017288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21576614
GeneALPL
is asnp
is mentioned by
dbSNPrs759017288
ebirs759017288
HLIrs759017288
Exacrs759017288
Varsomers759017288
Maprs759017288
PheGenIrs759017288
hapmaprs759017288
1000 genomesrs759017288
hgdprs759017288
ensemblrs759017288
gopubmedrs759017288
geneviewrs759017288
scholarrs759017288
googlers759017288
pharmgkbrs759017288
gwascentralrs759017288
openSNPrs759017288
23andMers759017288
23andMe allrs759017288
SNP Nexus

SNPshotrs759017288
SNPdbers759017288
MSV3drs759017288
GWAS Ctlgrs759017288
Max Magnitude4
rs759017288, also known as c.1282C>T or p.R428X, 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 i6006888 by 23andMe.