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rs781272386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
Make rs781272386(G;T)
Make rs781272386(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21570327
GeneALPL
is asnp
is mentioned by
dbSNPrs781272386
ebirs781272386
HLIrs781272386
Exacrs781272386
Varsomers781272386
Maprs781272386
PheGenIrs781272386
hapmaprs781272386
1000 genomesrs781272386
hgdprs781272386
ensemblrs781272386
gopubmedrs781272386
geneviewrs781272386
scholarrs781272386
googlers781272386
pharmgkbrs781272386
gwascentralrs781272386
openSNPrs781272386
23andMers781272386
23andMe allrs781272386
SNP Nexus

SNPshotrs781272386
SNPdbers781272386
MSV3drs781272386
GWAS Ctlgrs781272386
Max Magnitude4
rs781272386, also known as c.815G>A or p.R272H, 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.