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rs138690664

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
Position21577421
GeneALPL
is asnp
is mentioned by
dbSNPrs138690664
ebirs138690664
HLIrs138690664
Exacrs138690664
Varsomers138690664
Maprs138690664
PheGenIrs138690664
hapmaprs138690664
1000 genomesrs138690664
hgdprs138690664
ensemblrs138690664
gopubmedrs138690664
geneviewrs138690664
scholarrs138690664
googlers138690664
pharmgkbrs138690664
gwascentralrs138690664
openSNPrs138690664
23andMers138690664
23andMe allrs138690664
SNP Nexus

SNPshotrs138690664
SNPdbers138690664
MSV3drs138690664
GWAS Ctlgrs138690664
Max Magnitude4
rs138690664, also known as c.1348C>T or p.R450C, 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 i6006996 by 23andMe.