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rs765011829

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
Position21564143
GeneALPL
is asnp
is mentioned by
dbSNPrs765011829
ebirs765011829
HLIrs765011829
Exacrs765011829
Varsomers765011829
Maprs765011829
PheGenIrs765011829
hapmaprs765011829
1000 genomesrs765011829
hgdprs765011829
ensemblrs765011829
gopubmedrs765011829
geneviewrs765011829
scholarrs765011829
googlers765011829
pharmgkbrs765011829
gwascentralrs765011829
openSNPrs765011829
23andMers765011829
23andMe allrs765011829
SNP Nexus

SNPshotrs765011829
SNPdbers765011829
MSV3drs765011829
GWAS Ctlgrs765011829
Max Magnitude4
rs765011829, also known as c.575T>C or p.M192T, 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.