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rs121918017

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
Position21573694
GeneALPL
is asnp
is mentioned by
dbSNPrs121918017
ebirs121918017
HLIrs121918017
Exacrs121918017
Varsomers121918017
Maprs121918017
PheGenIrs121918017
hapmaprs121918017
1000 genomesrs121918017
hgdprs121918017
ensemblrs121918017
gopubmedrs121918017
geneviewrs121918017
scholarrs121918017
googlers121918017
pharmgkbrs121918017
gwascentralrs121918017
openSNPrs121918017
23andMers121918017
23andMe allrs121918017
SNP Nexus

SNPshotrs121918017
SNPdbers121918017
MSV3drs121918017
GWAS Ctlgrs121918017
Max Magnitude4
rs121918017, also known as c.892G>A or p.E298K, 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.

OMIM171760
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121918017(A;A)
Alt rs121918017(A;A)
Reference rs121918017(G;G)
Significance Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21900187G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014657.20,