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rs770548228

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21576608
GeneALPL
is asnp
is mentioned by
dbSNPrs770548228
ebirs770548228
HLIrs770548228
Exacrs770548228
Varsomers770548228
Maprs770548228
PheGenIrs770548228
hapmaprs770548228
1000 genomesrs770548228
hgdprs770548228
ensemblrs770548228
gopubmedrs770548228
geneviewrs770548228
scholarrs770548228
googlers770548228
pharmgkbrs770548228
gwascentralrs770548228
openSNPrs770548228
23andMers770548228
23andMe allrs770548228
SNP Nexus

SNPshotrs770548228
SNPdbers770548228
MSV3drs770548228
GWAS Ctlgrs770548228
Max Magnitude4
rs770548228, also known as c.1276G>A or p.G426S, 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.