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rs121918014

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21576582
GeneALPL
is asnp
is mentioned by
dbSNPrs121918014
ebirs121918014
HLIrs121918014
Exacrs121918014
Varsomers121918014
Maprs121918014
PheGenIrs121918014
hapmaprs121918014
1000 genomesrs121918014
hgdprs121918014
ensemblrs121918014
gopubmedrs121918014
geneviewrs121918014
scholarrs121918014
googlers121918014
pharmgkbrs121918014
gwascentralrs121918014
openSNPrs121918014
23andMers121918014
23andMe allrs121918014
SNP Nexus

SNPshotrs121918014
SNPdbers121918014
MSV3drs121918014
GWAS Ctlgrs121918014
Max Magnitude4
rs121918014, also known as c.1250A>G or p.N417S, 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 perinatal form of hypophosphatasia.

OMIM171760
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918014(G;G)
Alt rs121918014(G;G)
Reference rs121918014(A;A)
Significance Pathogenic
Disease Infantile hypophosphatasia Hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Hypophosphatasia, perinatal lethal
Reversed 0
HGVS NC_000001.10:g.21903075A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014672.27, RCV000169778.2,