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

rs746390776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21575901
GeneALPL
is asnp
is mentioned by
dbSNPrs746390776
ebirs746390776
HLIrs746390776
Exacrs746390776
Varsomers746390776
Maprs746390776
PheGenIrs746390776
hapmaprs746390776
1000 genomesrs746390776
hgdprs746390776
ensemblrs746390776
gopubmedrs746390776
geneviewrs746390776
scholarrs746390776
googlers746390776
pharmgkbrs746390776
gwascentralrs746390776
openSNPrs746390776
23andMers746390776
23andMe allrs746390776
SNP Nexus

SNPshotrs746390776
SNPdbers746390776
MSV3drs746390776
GWAS Ctlgrs746390776
Max Magnitude4
rs746390776, also known as c.1166C>A or p.T389N, 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.