Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21561126
GeneALPL
is asnp
is mentioned by
dbSNPrs121918001
ebirs121918001
HLIrs121918001
Exacrs121918001
Varsomers121918001
Maprs121918001
PheGenIrs121918001
hapmaprs121918001
1000 genomesrs121918001
hgdprs121918001
ensemblrs121918001
gopubmedrs121918001
geneviewrs121918001
scholarrs121918001
googlers121918001
pharmgkbrs121918001
gwascentralrs121918001
openSNPrs121918001
23andMers121918001
23andMe allrs121918001
SNP Nexus

SNPshotrs121918001
SNPdbers121918001
MSV3drs121918001
GWAS Ctlgrs121918001
Max Magnitude4
rs121918001, also known as c.211C>A or p.R71S, 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 childhood form of hypophosphatasia. rs121918001, also known as c.211C>T or p.R71C, 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 i5002774 by 23andMe.

OMIM171760
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918001(A,T;A,T)
Alt rs121918001(A,T;A,T)
Reference rs121918001(C;C)
Significance Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887619C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014649.25,