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rs121918013

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
Position21563158
GeneALPL
is asnp
is mentioned by
dbSNPrs121918013
ebirs121918013
HLIrs121918013
Exacrs121918013
Varsomers121918013
Maprs121918013
PheGenIrs121918013
hapmaprs121918013
1000 genomesrs121918013
hgdprs121918013
ensemblrs121918013
gopubmedrs121918013
geneviewrs121918013
scholarrs121918013
googlers121918013
pharmgkbrs121918013
gwascentralrs121918013
openSNPrs121918013
23andMers121918013
23andMe allrs121918013
SNP Nexus

SNPshotrs121918013
SNPdbers121918013
MSV3drs121918013
GWAS Ctlgrs121918013
Merged fromRs28933974
Max Magnitude4
rs121918013, also known as c.346G>A or p.A116T, 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 adult form of hypophosphatasia.

This SNP is referred to as i6006946 by 23andMe.

OMIM171760
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918013(A;A)
Alt rs121918013(A;A)
Reference rs121918013(G;G)
Significance Pathogenic
Disease Childhood hypophosphatasia Adult hypophosphatasia Odontohypophosphatasia Infantile hypophosphatasia not provided
Variation info
Gene ALPL
CLNDBN Childhood hypophosphatasia Adult hypophosphatasia Odontohypophosphatasia Infantile hypophosphatasia not provided
Reversed 0
HGVS NC_000001.10:g.21889651G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014668.19, RCV000014669.25, RCV000014670.19, RCV000169426.1, RCV000224118.1,