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rs121918020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21570326
GeneALPL
is asnp
is mentioned by
dbSNPrs121918020
ebirs121918020
HLIrs121918020
Exacrs121918020
Varsomers121918020
Maprs121918020
PheGenIrs121918020
hapmaprs121918020
1000 genomesrs121918020
hgdprs121918020
ensemblrs121918020
gopubmedrs121918020
geneviewrs121918020
scholarrs121918020
googlers121918020
pharmgkbrs121918020
gwascentralrs121918020
openSNPrs121918020
23andMers121918020
23andMe allrs121918020
SNP Nexus

SNPshotrs121918020
SNPdbers121918020
MSV3drs121918020
GWAS Ctlgrs121918020
Max Magnitude4
rs121918020, also known as c.814C>T or p.R272C, 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 i5002756 by 23andMe.

OMIM171760
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121918020(T;T)
Alt rs121918020(T;T)
Reference rs121918020(C;C)
Significance Pathogenic
Disease Infantile hypophosphatasia Childhood hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Childhood hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21896819C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014679.21, RCV000169779.2,