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rs567349821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia
Make rs567349821(C;T)
Make rs567349821(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21575812
GeneALPL
is asnp
is mentioned by
dbSNPrs567349821
ebirs567349821
HLIrs567349821
Exacrs567349821
Varsomers567349821
Maprs567349821
PheGenIrs567349821
hapmaprs567349821
1000 genomesrs567349821
hgdprs567349821
ensemblrs567349821
gopubmedrs567349821
geneviewrs567349821
scholarrs567349821
googlers567349821
pharmgkbrs567349821
gwascentralrs567349821
openSNPrs567349821
23andMers567349821
23andMe allrs567349821
SNP Nexus

SNPshotrs567349821
SNPdbers567349821
MSV3drs567349821
GWAS Ctlgrs567349821
Max Magnitude4
rs567349821, also known as c.1077C>G or p.I359M, 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.