Have questions? Visit https://www.reddit.com/r/SNPedia

rs34810399

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
Position21577454
GeneALPL
is asnp
is mentioned by
dbSNPrs34810399
ebirs34810399
HLIrs34810399
Exacrs34810399
Varsomers34810399
Maprs34810399
PheGenIrs34810399
hapmaprs34810399
1000 genomesrs34810399
hgdprs34810399
ensemblrs34810399
gopubmedrs34810399
geneviewrs34810399
scholarrs34810399
googlers34810399
pharmgkbrs34810399
gwascentralrs34810399
openSNPrs34810399
23andMers34810399
23andMe allrs34810399
SNP Nexus

SNPshotrs34810399
SNPdbers34810399
MSV3drs34810399
GWAS Ctlgrs34810399
Max Magnitude4
rs34810399, also known as c.1381G>A or p.V461I, 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 asymptomatic, low BMD form of hypophosphatasia.