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rs760029254

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
Position21564052
GeneALPL
is asnp
is mentioned by
dbSNPrs760029254
ebirs760029254
HLIrs760029254
Exacrs760029254
Varsomers760029254
Maprs760029254
PheGenIrs760029254
hapmaprs760029254
1000 genomesrs760029254
hgdprs760029254
ensemblrs760029254
gopubmedrs760029254
geneviewrs760029254
scholarrs760029254
googlers760029254
pharmgkbrs760029254
gwascentralrs760029254
openSNPrs760029254
23andMers760029254
23andMe allrs760029254
SNP Nexus

SNPshotrs760029254
SNPdbers760029254
MSV3drs760029254
GWAS Ctlgrs760029254
Max Magnitude4
rs760029254, also known as c.484G>A or p.G162S, 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.