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rs780583917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21563213
GeneALPL
is asnp
is mentioned by
dbSNPrs780583917
ebirs780583917
HLIrs780583917
Exacrs780583917
Varsomers780583917
Maprs780583917
PheGenIrs780583917
hapmaprs780583917
1000 genomesrs780583917
hgdprs780583917
ensemblrs780583917
gopubmedrs780583917
geneviewrs780583917
scholarrs780583917
googlers780583917
pharmgkbrs780583917
gwascentralrs780583917
openSNPrs780583917
23andMers780583917
23andMe allrs780583917
SNP Nexus

SNPshotrs780583917
SNPdbers780583917
MSV3drs780583917
GWAS Ctlgrs780583917
Max Magnitude4
rs780583917, also known as c.401C>A or p.T134N, 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 i6006889 by 23andMe.