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rs772682471

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
Position21575918
GeneALPL
is asnp
is mentioned by
dbSNPrs772682471
ebirs772682471
HLIrs772682471
Exacrs772682471
Varsomers772682471
Maprs772682471
PheGenIrs772682471
hapmaprs772682471
1000 genomesrs772682471
hgdprs772682471
ensemblrs772682471
gopubmedrs772682471
geneviewrs772682471
scholarrs772682471
googlers772682471
pharmgkbrs772682471
gwascentralrs772682471
openSNPrs772682471
23andMers772682471
23andMe allrs772682471
SNP Nexus

SNPshotrs772682471
SNPdbers772682471
MSV3drs772682471
GWAS Ctlgrs772682471
Max Magnitude4
rs772682471, also known as c.1183A>G or p.I395V, 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 prenatal benign form of hypophosphatasia.