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rs778232217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21564080
GeneALPL
is asnp
is mentioned by
dbSNPrs778232217
ebirs778232217
HLIrs778232217
Exacrs778232217
Varsomers778232217
Maprs778232217
PheGenIrs778232217
hapmaprs778232217
1000 genomesrs778232217
hgdprs778232217
ensemblrs778232217
gopubmedrs778232217
geneviewrs778232217
scholarrs778232217
googlers778232217
pharmgkbrs778232217
gwascentralrs778232217
openSNPrs778232217
23andMers778232217
23andMe allrs778232217
SNP Nexus

SNPshotrs778232217
SNPdbers778232217
MSV3drs778232217
GWAS Ctlgrs778232217
Max Magnitude4
rs778232217, also known as c.512A>G or p.H171R, 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 adult form of hypophosphatasia.

This SNP is referred to as i6006912 by 23andMe.