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rs121918010

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
Position21573781
GeneALPL
is asnp
is mentioned by
dbSNPrs121918010
ebirs121918010
HLIrs121918010
Exacrs121918010
Varsomers121918010
Maprs121918010
PheGenIrs121918010
hapmaprs121918010
1000 genomesrs121918010
hgdprs121918010
ensemblrs121918010
gopubmedrs121918010
geneviewrs121918010
scholarrs121918010
googlers121918010
pharmgkbrs121918010
gwascentralrs121918010
openSNPrs121918010
23andMers121918010
23andMe allrs121918010
SNP Nexus

SNPshotrs121918010
SNPdbers121918010
MSV3drs121918010
GWAS Ctlgrs121918010
Max Magnitude4
rs121918010, also known as c.979T>C or p.F327L, 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 i5002765 by 23andMe.

OMIM171760
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918010(C;C)
Alt rs121918010(C;C)
Reference rs121918010(T;T)
Significance Pathogenic
Disease Infantile hypophosphatasia Hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21900274T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014664.25, RCV000207096.1,