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rs763244290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 4 hypophosphatasia
(-;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21560692
GeneALPL
is asnp
is mentioned by
dbSNPrs763244290
ebirs763244290
HLIrs763244290
Exacrs763244290
Varsomers763244290
Maprs763244290
PheGenIrs763244290
hapmaprs763244290
1000 genomesrs763244290
hgdprs763244290
ensemblrs763244290
gopubmedrs763244290
geneviewrs763244290
scholarrs763244290
googlers763244290
pharmgkbrs763244290
gwascentralrs763244290
openSNPrs763244290
23andMers763244290
23andMe allrs763244290
SNP Nexus

SNPshotrs763244290
SNPdbers763244290
MSV3drs763244290
GWAS Ctlgrs763244290
Max Magnitude4
rs763244290, also known as c.129delT or p.Q44RfsX23, 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.