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rs786204473

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position21573673
GeneALPL
is asnp
is mentioned by
dbSNPrs786204473
ebirs786204473
HLIrs786204473
Exacrs786204473
Varsomers786204473
Maprs786204473
PheGenIrs786204473
hapmaprs786204473
1000 genomesrs786204473
hgdprs786204473
ensemblrs786204473
gopubmedrs786204473
geneviewrs786204473
scholarrs786204473
googlers786204473
pharmgkbrs786204473
gwascentralrs786204473
openSNPrs786204473
23andMers786204473
23andMe allrs786204473
SNP Nexus

SNPshotrs786204473
SNPdbers786204473
MSV3drs786204473
GWAS Ctlgrs786204473
Max Magnitude4
rs786204473, also known as c.871G>A or p.E291K, 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 rs786204473(A;A)
Alt rs786204473(A;A)
Reference rs786204473(G;G)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21900166G>A
CLNSRC
CLNACC RCV000169122.1,