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rs751977466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21575919
GeneALPL
is asnp
is mentioned by
dbSNPrs751977466
ebirs751977466
HLIrs751977466
Exacrs751977466
Varsomers751977466
Maprs751977466
PheGenIrs751977466
hapmaprs751977466
1000 genomesrs751977466
hgdprs751977466
ensemblrs751977466
gopubmedrs751977466
geneviewrs751977466
scholarrs751977466
googlers751977466
pharmgkbrs751977466
gwascentralrs751977466
openSNPrs751977466
23andMers751977466
23andMe allrs751977466
SNP Nexus

SNPshotrs751977466
SNPdbers751977466
MSV3drs751977466
GWAS Ctlgrs751977466
Max Magnitude4
rs751977466, also known as c.1184T>C or p.I395T, 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.

This SNP is referred to as i6006897 by 23andMe.