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rs121918002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21573683
GeneALPL
is asnp
is mentioned by
dbSNPrs121918002
ebirs121918002
HLIrs121918002
Exacrs121918002
Varsomers121918002
Maprs121918002
PheGenIrs121918002
hapmaprs121918002
1000 genomesrs121918002
hgdprs121918002
ensemblrs121918002
gopubmedrs121918002
geneviewrs121918002
scholarrs121918002
googlers121918002
pharmgkbrs121918002
gwascentralrs121918002
openSNPrs121918002
23andMers121918002
23andMe allrs121918002
SNP Nexus

SNPshotrs121918002
SNPdbers121918002
MSV3drs121918002
GWAS Ctlgrs121918002
Max Magnitude4
rs121918002, also known as c.881A>C or p.D294A, 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 infantile form of hypophosphatasia.

This SNP is referred to as i5002773 by 23andMe.

OMIM171760
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918002(C;C)
Alt rs121918002(C;C)
Reference rs121918002(A;A)
Significance Pathogenic
Disease Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia not provided
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia not provided
Reversed 0
HGVS NC_000001.10:g.21900176A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014650.26, RCV000014651.26, RCV000014652.20, RCV000224505.1,