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rs781264043

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21561130
GeneALPL
is asnp
is mentioned by
dbSNPrs781264043
ebirs781264043
HLIrs781264043
Exacrs781264043
Varsomers781264043
Maprs781264043
PheGenIrs781264043
hapmaprs781264043
1000 genomesrs781264043
hgdprs781264043
ensemblrs781264043
gopubmedrs781264043
geneviewrs781264043
scholarrs781264043
googlers781264043
pharmgkbrs781264043
gwascentralrs781264043
openSNPrs781264043
23andMers781264043
23andMe allrs781264043
SNP Nexus

SNPshotrs781264043
SNPdbers781264043
MSV3drs781264043
GWAS Ctlgrs781264043
Max Magnitude4
rs781264043, also known as c.215T>C or p.I72T, 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 odonto form of hypophosphatasia.

This SNP is referred to as i6006895 by 23andMe.

ClinVar
Risk rs781264043(C;C)
Alt rs781264043(C;C)
Reference rs781264043(T;T)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887623T>C
CLNSRC
CLNACC RCV000169295.1,