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rs371243939

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
Position21575906
GeneALPL
is asnp
is mentioned by
dbSNPrs371243939
ebirs371243939
HLIrs371243939
Exacrs371243939
Varsomers371243939
Maprs371243939
PheGenIrs371243939
hapmaprs371243939
1000 genomesrs371243939
hgdprs371243939
ensemblrs371243939
gopubmedrs371243939
geneviewrs371243939
scholarrs371243939
googlers371243939
pharmgkbrs371243939
gwascentralrs371243939
openSNPrs371243939
23andMers371243939
23andMe allrs371243939
SNP Nexus

SNPshotrs371243939
SNPdbers371243939
MSV3drs371243939
GWAS Ctlgrs371243939
Max Magnitude4
rs371243939, also known as c.1171C>T or p.R391C, 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 childhood form of hypophosphatasia.

This SNP is referred to as i6006927 by 23andMe.