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

rs769020799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 hypophosphatasia
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21568116
GeneALPL
is asnp
is mentioned by
dbSNPrs769020799
ebirs769020799
HLIrs769020799
Exacrs769020799
Varsomers769020799
Maprs769020799
PheGenIrs769020799
hapmaprs769020799
1000 genomesrs769020799
hgdprs769020799
ensemblrs769020799
gopubmedrs769020799
geneviewrs769020799
scholarrs769020799
googlers769020799
pharmgkbrs769020799
gwascentralrs769020799
openSNPrs769020799
23andMers769020799
23andMe allrs769020799
SNP Nexus

SNPshotrs769020799
SNPdbers769020799
MSV3drs769020799
GWAS Ctlgrs769020799
Max Magnitude4
rs769020799, also known as c.661G>C or p.G221R, 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 perinatal form of hypophosphatasia.