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rs755529290

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21573693
GeneALPL
is asnp
is mentioned by
dbSNPrs755529290
ebirs755529290
HLIrs755529290
Exacrs755529290
Varsomers755529290
Maprs755529290
PheGenIrs755529290
hapmaprs755529290
1000 genomesrs755529290
hgdprs755529290
ensemblrs755529290
gopubmedrs755529290
geneviewrs755529290
scholarrs755529290
googlers755529290
pharmgkbrs755529290
gwascentralrs755529290
openSNPrs755529290
23andMers755529290
23andMe allrs755529290
SNP Nexus

SNPshotrs755529290
SNPdbers755529290
MSV3drs755529290
GWAS Ctlgrs755529290
Max Magnitude4
rs755529290, also known as c.891C>A or p.Y297X, 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.

ClinVar
Risk rs755529290(A;A)
Alt rs755529290(A;A)
Reference rs755529290(C;C)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21900186C>A
CLNSRC
CLNACC RCV000169514.1,