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rs763073466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21577473
GeneALPL
is asnp
is mentioned by
dbSNPrs763073466
ebirs763073466
HLIrs763073466
Exacrs763073466
Varsomers763073466
Maprs763073466
PheGenIrs763073466
hapmaprs763073466
1000 genomesrs763073466
hgdprs763073466
ensemblrs763073466
gopubmedrs763073466
geneviewrs763073466
scholarrs763073466
googlers763073466
pharmgkbrs763073466
gwascentralrs763073466
openSNPrs763073466
23andMers763073466
23andMe allrs763073466
SNP Nexus

SNPshotrs763073466
SNPdbers763073466
MSV3drs763073466
GWAS Ctlgrs763073466
Max Magnitude4
rs763073466, also known as c.1400T>C or p.M467T, 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.