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rs121918012

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
Position21564053
GeneALPL
is asnp
is mentioned by
dbSNPrs121918012
ebirs121918012
HLIrs121918012
Exacrs121918012
Varsomers121918012
Maprs121918012
PheGenIrs121918012
hapmaprs121918012
1000 genomesrs121918012
hgdprs121918012
ensemblrs121918012
gopubmedrs121918012
geneviewrs121918012
scholarrs121918012
googlers121918012
pharmgkbrs121918012
gwascentralrs121918012
openSNPrs121918012
23andMers121918012
23andMe allrs121918012
SNP Nexus

SNPshotrs121918012
SNPdbers121918012
MSV3drs121918012
GWAS Ctlgrs121918012
Max Magnitude4
rs121918012, also known as c.485G>T or p.G162V, 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
Variant0014
Relatedalso
ClinVar
Risk rs121918012(T;T)
Alt rs121918012(T;T)
Reference rs121918012(G;G)
Significance Pathogenic
Disease Childhood hypophosphatasia
Variation info
Gene ALPL
CLNDBN Childhood hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21890546G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014667.27,