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rs148405563

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
Position21570330
GeneALPL
is asnp
is mentioned by
dbSNPrs148405563
ebirs148405563
HLIrs148405563
Exacrs148405563
Varsomers148405563
Maprs148405563
PheGenIrs148405563
hapmaprs148405563
1000 genomesrs148405563
hgdprs148405563
ensemblrs148405563
gopubmedrs148405563
geneviewrs148405563
scholarrs148405563
googlers148405563
pharmgkbrs148405563
gwascentralrs148405563
openSNPrs148405563
23andMers148405563
23andMe allrs148405563
SNP Nexus

SNPshotrs148405563
SNPdbers148405563
MSV3drs148405563
GWAS Ctlgrs148405563
Max Magnitude4
rs148405563, also known as c.818C>T or p.T273M, 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 asymptomatic, low BMD form of hypophosphatasia.