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rs747488546

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
Position21568113
GeneALPL
is asnp
is mentioned by
dbSNPrs747488546
ebirs747488546
HLIrs747488546
Exacrs747488546
Varsomers747488546
Maprs747488546
PheGenIrs747488546
hapmaprs747488546
1000 genomesrs747488546
hgdprs747488546
ensemblrs747488546
gopubmedrs747488546
geneviewrs747488546
scholarrs747488546
googlers747488546
pharmgkbrs747488546
gwascentralrs747488546
openSNPrs747488546
23andMers747488546
23andMe allrs747488546
SNP Nexus

SNPshotrs747488546
SNPdbers747488546
MSV3drs747488546
GWAS Ctlgrs747488546
Max Magnitude4
rs747488546, also known as c.658G>A or p.G220R, 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 perinatal form of hypophosphatasia.