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rs770093969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21560683
GeneALPL
is asnp
is mentioned by
dbSNPrs770093969
ebirs770093969
HLIrs770093969
Exacrs770093969
Varsomers770093969
Maprs770093969
PheGenIrs770093969
hapmaprs770093969
1000 genomesrs770093969
hgdprs770093969
ensemblrs770093969
gopubmedrs770093969
geneviewrs770093969
scholarrs770093969
googlers770093969
pharmgkbrs770093969
gwascentralrs770093969
openSNPrs770093969
23andMers770093969
23andMe allrs770093969
SNP Nexus

SNPshotrs770093969
SNPdbers770093969
MSV3drs770093969
GWAS Ctlgrs770093969
Max Magnitude4
rs770093969, also known as c.119C>T or p.A40V, 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 i6006989 by 23andMe.