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rs121918016

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
Position21577439
GeneALPL
is asnp
is mentioned by
dbSNPrs121918016
ebirs121918016
HLIrs121918016
Exacrs121918016
Varsomers121918016
Maprs121918016
PheGenIrs121918016
hapmaprs121918016
1000 genomesrs121918016
hgdprs121918016
ensemblrs121918016
gopubmedrs121918016
geneviewrs121918016
scholarrs121918016
googlers121918016
pharmgkbrs121918016
gwascentralrs121918016
openSNPrs121918016
23andMers121918016
23andMe allrs121918016
SNP Nexus

SNPshotrs121918016
SNPdbers121918016
MSV3drs121918016
GWAS Ctlgrs121918016
Max Magnitude4
rs121918016, also known as c.1366G>A or p.G456R, 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 i6006956 by 23andMe.

OMIM171760
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121918016(A;A)
Alt rs121918016(A;A)
Reference rs121918016(G;G)
Significance Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21903932G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014674.20,