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

rs387906525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 4 hypophosphatasia
(-;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome1
Position21577632
GeneALPL
is asnp
is mentioned by
dbSNPrs387906525
ebirs387906525
HLIrs387906525
Exacrs387906525
Varsomers387906525
Maprs387906525
PheGenIrs387906525
hapmaprs387906525
1000 genomesrs387906525
hgdprs387906525
ensemblrs387906525
gopubmedrs387906525
geneviewrs387906525
scholarrs387906525
googlers387906525
pharmgkbrs387906525
gwascentralrs387906525
openSNPrs387906525
23andMers387906525
23andMe allrs387906525
SNP Nexus

SNPshotrs387906525
SNPdbers387906525
MSV3drs387906525
GWAS Ctlgrs387906525
Max Magnitude4

rs387906525, also known as c.1559delT, 1735delT and p.Leu520Argfs, is a mutation in the ALPL gene on chromosome 1.

This hypophosphatasia associated mutation has been observed primarily in Japanese.[PMID 7833929] It is considered to be inherited in a recessive manner, leading in homozygous or compound heterozygous form to infantile hypophosphatasia.

This SNP is most likely referred to as i5012686 by 23andMe.

ClinVar
Risk rs387906525(;)
Alt rs387906525(;)
Reference rs387906525(T;T)
Significance Pathogenic
Disease Infantile hypophosphatasia Hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21904125delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000014665.26, RCV000207209.1,