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rs753338851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 4 hypophosphatasia
(-;CTT) 3 carrier of a hypophosphatasia allele
(CTT;CTT) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21573780
GeneALPL
is asnp
is mentioned by
dbSNPrs753338851
ebirs753338851
HLIrs753338851
Exacrs753338851
Varsomers753338851
Maprs753338851
PheGenIrs753338851
hapmaprs753338851
1000 genomesrs753338851
hgdprs753338851
ensemblrs753338851
gopubmedrs753338851
geneviewrs753338851
scholarrs753338851
googlers753338851
pharmgkbrs753338851
gwascentralrs753338851
openSNPrs753338851
23andMers753338851
23andMe allrs753338851
SNP Nexus

SNPshotrs753338851
SNPdbers753338851
MSV3drs753338851
GWAS Ctlgrs753338851
Max Magnitude4
rs753338851, also known as c.984_986delCTT or p.F328del, 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.