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rs121918019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome1
Position21564094
GeneALPL
is asnp
is mentioned by
dbSNPrs121918019
ebirs121918019
HLIrs121918019
Exacrs121918019
Varsomers121918019
Maprs121918019
PheGenIrs121918019
hapmaprs121918019
1000 genomesrs121918019
hgdprs121918019
ensemblrs121918019
gopubmedrs121918019
geneviewrs121918019
scholarrs121918019
googlers121918019
pharmgkbrs121918019
gwascentralrs121918019
openSNPrs121918019
23andMers121918019
23andMe allrs121918019
SNP Nexus

SNPshotrs121918019
SNPdbers121918019
MSV3drs121918019
GWAS Ctlgrs121918019
GMAF0.0004591
Max Magnitude4
rs121918019, also known as c.526G>A or p.A176T, 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 childhood form of hypophosphatasia.

This SNP is referred to as i6006947 by 23andMe.

OMIM171760
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121918019(A;A)
Alt rs121918019(A;A)
Reference rs121918019(G;G)
Significance Pathogenic
Disease Infantile hypophosphatasia Childhood hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Childhood hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21890587G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014677.20, RCV000014678.20,