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rs143358506

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
Position21560674
GeneALPL
is asnp
is mentioned by
dbSNPrs143358506
ebirs143358506
HLIrs143358506
Exacrs143358506
Varsomers143358506
Maprs143358506
PheGenIrs143358506
hapmaprs143358506
1000 genomesrs143358506
hgdprs143358506
ensemblrs143358506
gopubmedrs143358506
geneviewrs143358506
scholarrs143358506
googlers143358506
pharmgkbrs143358506
gwascentralrs143358506
openSNPrs143358506
23andMers143358506
23andMe allrs143358506
SNP Nexus

SNPshotrs143358506
SNPdbers143358506
MSV3drs143358506
GWAS Ctlgrs143358506
Max Magnitude4
rs143358506, also known as c.110T>C or p.L37P, 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 i6006969 by 23andMe.