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rs121918009

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
Position21575736
GeneALPL
is asnp
is mentioned by
dbSNPrs121918009
ebirs121918009
HLIrs121918009
Exacrs121918009
Varsomers121918009
Maprs121918009
PheGenIrs121918009
hapmaprs121918009
1000 genomesrs121918009
hgdprs121918009
ensemblrs121918009
gopubmedrs121918009
geneviewrs121918009
scholarrs121918009
googlers121918009
pharmgkbrs121918009
gwascentralrs121918009
openSNPrs121918009
23andMers121918009
23andMe allrs121918009
SNP Nexus

SNPshotrs121918009
SNPdbers121918009
MSV3drs121918009
GWAS Ctlgrs121918009
Max Magnitude4
rs121918009, also known as c.1001G>A or p.G334D, 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 i5002766 by 23andMe.

OMIM171760
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918009(A;A)
Alt rs121918009(A;A)
Reference rs121918009(G;G)
Significance Pathogenic
Disease Infantile hypophosphatasia Hypophosphatasia not provided
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Hypophosphatasia not provided
Reversed 0
HGVS NC_000001.10:g.21902229G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014663.27, RCV000207270.1, RCV000224376.1,