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

rs121918006

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome1
Position21576638
GeneALPL
is asnp
is mentioned by
dbSNPrs121918006
ebirs121918006
HLIrs121918006
Exacrs121918006
Varsomers121918006
Maprs121918006
PheGenIrs121918006
hapmaprs121918006
1000 genomesrs121918006
hgdprs121918006
ensemblrs121918006
gopubmedrs121918006
geneviewrs121918006
scholarrs121918006
googlers121918006
pharmgkbrs121918006
gwascentralrs121918006
openSNPrs121918006
23andMers121918006
23andMe allrs121918006
SNP Nexus

SNPshotrs121918006
SNPdbers121918006
MSV3drs121918006
GWAS Ctlgrs121918006
Max Magnitude4
rs121918006, also known as c.1306T>C or p.Y436H, 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.

This SNP is referred to as i5002769 by 23andMe.

OMIM171760
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918006(C;C)
Alt rs121918006(C;C)
Reference rs121918006(T;T)
Significance Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21903131T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014656.25,