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rs121918008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21575868
GeneALPL
is asnp
is mentioned by
dbSNPrs121918008
ebirs121918008
HLIrs121918008
Exacrs121918008
Varsomers121918008
Maprs121918008
PheGenIrs121918008
hapmaprs121918008
1000 genomesrs121918008
hgdprs121918008
ensemblrs121918008
gopubmedrs121918008
geneviewrs121918008
scholarrs121918008
googlers121918008
pharmgkbrs121918008
gwascentralrs121918008
openSNPrs121918008
23andMers121918008
23andMe allrs121918008
SNP Nexus

SNPshotrs121918008
SNPdbers121918008
MSV3drs121918008
GWAS Ctlgrs121918008
Max Magnitude4
rs121918008, also known as c.1133A>T or p.D378V, 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 i5012683 by 23andMe.

OMIM171760
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918008(T;T)
Alt rs121918008(T;T)
Reference rs121918008(A;A)
Significance Pathogenic
Disease Infantile hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided
Reversed 0
HGVS NC_000001.10:g.21902361A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014661.27, RCV000014662.26, RCV000207084.1, RCV000224520.1,