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rs121918018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21568201
GeneALPL
is asnp
is mentioned by
dbSNPrs121918018
ebirs121918018
HLIrs121918018
Exacrs121918018
Varsomers121918018
Maprs121918018
PheGenIrs121918018
hapmaprs121918018
1000 genomesrs121918018
hgdprs121918018
ensemblrs121918018
gopubmedrs121918018
geneviewrs121918018
scholarrs121918018
googlers121918018
pharmgkbrs121918018
gwascentralrs121918018
openSNPrs121918018
23andMers121918018
23andMe allrs121918018
SNP Nexus

SNPshotrs121918018
SNPdbers121918018
MSV3drs121918018
GWAS Ctlgrs121918018
Max Magnitude4
rs121918018, also known as c.746G>T or p.G249V, 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 i5002758 by 23andMe.

OMIM171760
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121918018(C,T;C,T)
Alt rs121918018(C,T;C,T)
Reference rs121918018(G;G)
Significance Pathogenic
Disease Childhood hypophosphatasia Odontohypophosphatasia
Variation info
Gene ALPL
CLNDBN Childhood hypophosphatasia Odontohypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21894694G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014675.25, RCV000014676.24,