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rs121918015

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21563135
GeneALPL
is asnp
is mentioned by
dbSNPrs121918015
ebirs121918015
HLIrs121918015
Exacrs121918015
Varsomers121918015
Maprs121918015
PheGenIrs121918015
hapmaprs121918015
1000 genomesrs121918015
hgdprs121918015
ensemblrs121918015
gopubmedrs121918015
geneviewrs121918015
scholarrs121918015
googlers121918015
pharmgkbrs121918015
gwascentralrs121918015
openSNPrs121918015
23andMers121918015
23andMe allrs121918015
SNP Nexus

SNPshotrs121918015
SNPdbers121918015
MSV3drs121918015
GWAS Ctlgrs121918015
Merged fromRs28933975
Max Magnitude4
rs121918015, also known as c.323C>T or p.P108L, 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 odonto form of hypophosphatasia.

This SNP is referred to as i5900451 by 23andMe.

OMIM171760
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121918015(T;T)
Alt rs121918015(T;T)
Reference rs121918015(C;C)
Significance Pathogenic
Disease Odontohypophosphatasia
Variation info
Gene ALPL
CLNDBN Odontohypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21889628C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014673.24,