Have questions? Visit https://www.reddit.com/r/SNPedia

rs751292739

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
Position21575847
GeneALPL
is asnp
is mentioned by
dbSNPrs751292739
ebirs751292739
HLIrs751292739
Exacrs751292739
Varsomers751292739
Maprs751292739
PheGenIrs751292739
hapmaprs751292739
1000 genomesrs751292739
hgdprs751292739
ensemblrs751292739
gopubmedrs751292739
geneviewrs751292739
scholarrs751292739
googlers751292739
pharmgkbrs751292739
gwascentralrs751292739
openSNPrs751292739
23andMers751292739
23andMe allrs751292739
SNP Nexus

SNPshotrs751292739
SNPdbers751292739
MSV3drs751292739
GWAS Ctlgrs751292739
Max Magnitude4
rs751292739, also known as c.1112C>T or p.T371I, 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 i6006890 by 23andMe.