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rs766076920

From SNPedia

Orientationplus
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
Position21568122
GeneALPL
is asnp
is mentioned by
dbSNPrs766076920
ebirs766076920
HLIrs766076920
Exacrs766076920
Varsomers766076920
Maprs766076920
PheGenIrs766076920
hapmaprs766076920
1000 genomesrs766076920
hgdprs766076920
ensemblrs766076920
gopubmedrs766076920
geneviewrs766076920
scholarrs766076920
googlers766076920
pharmgkbrs766076920
gwascentralrs766076920
openSNPrs766076920
23andMers766076920
23andMe allrs766076920
SNP Nexus

SNPshotrs766076920
SNPdbers766076920
MSV3drs766076920
GWAS Ctlgrs766076920
Max Magnitude4
rs766076920, also known as c.667C>T or p.R223W, 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 i6006926 by 23andMe.

ClinVar
Risk rs766076920(T;T)
Alt rs766076920(T;T)
Reference rs766076920(C;C)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21894615C>T
CLNSRC
CLNACC RCV000169383.1,