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rs552831415

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
Position21575855
GeneALPL
is asnp
is mentioned by
dbSNPrs552831415
ClinGenrs552831415
ebirs552831415
HLIrs552831415
Exacrs552831415
Varsomers552831415
Maprs552831415
PheGenIrs552831415
hapmaprs552831415
1000 genomesrs552831415
hgdprs552831415
ensemblrs552831415
gopubmedrs552831415
geneviewrs552831415
scholarrs552831415
googlers552831415
pharmgkbrs552831415
gwascentralrs552831415
openSNPrs552831415
23andMers552831415
23andMe allrs552831415
SNP Nexus

SNPshotrs552831415
SNPdbers552831415
MSV3drs552831415
GWAS Ctlgrs552831415
Max Magnitude4
rs552831415, also known as c.1120G>A or p.V374M, 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.