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rs121918003

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 hypophosphatasia
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome1
Position21561127
GeneALPL
is asnp
is mentioned by
dbSNPrs121918003
ebirs121918003
HLIrs121918003
Exacrs121918003
Varsomers121918003
Maprs121918003
PheGenIrs121918003
hapmaprs121918003
1000 genomesrs121918003
hgdprs121918003
ensemblrs121918003
gopubmedrs121918003
geneviewrs121918003
scholarrs121918003
googlers121918003
pharmgkbrs121918003
gwascentralrs121918003
openSNPrs121918003
23andMers121918003
23andMe allrs121918003
SNP Nexus

SNPshotrs121918003
SNPdbers121918003
MSV3drs121918003
GWAS Ctlgrs121918003
Max Magnitude4
rs121918003, also known as c.212G>C or p.R71P, 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.

This SNP is referred to as i5002772 by 23andMe.

OMIM171760
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918003(C;C)
Alt rs121918003(C;C)
Reference rs121918003(G;G)
Significance Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887620G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014653.19,