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rs765458125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal
Make rs765458125(C;T)
Make rs765458125(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21573676
GeneALPL
is asnp
is mentioned by
dbSNPrs765458125
ebirs765458125
HLIrs765458125
Exacrs765458125
Varsomers765458125
Maprs765458125
PheGenIrs765458125
hapmaprs765458125
1000 genomesrs765458125
hgdprs765458125
ensemblrs765458125
gopubmedrs765458125
geneviewrs765458125
scholarrs765458125
googlers765458125
pharmgkbrs765458125
gwascentralrs765458125
openSNPrs765458125
23andMers765458125
23andMe allrs765458125
SNP Nexus

SNPshotrs765458125
SNPdbers765458125
MSV3drs765458125
GWAS Ctlgrs765458125
Max Magnitude4
rs765458125, also known as c.874C>A or p.P292T, 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.

This SNP is referred to as i6006991 by 23andMe.