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

rs786204442

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position21568246
GeneALPL
is asnp
is mentioned by
dbSNPrs786204442
ebirs786204442
HLIrs786204442
Exacrs786204442
Varsomers786204442
Maprs786204442
PheGenIrs786204442
hapmaprs786204442
1000 genomesrs786204442
hgdprs786204442
ensemblrs786204442
gopubmedrs786204442
geneviewrs786204442
scholarrs786204442
googlers786204442
pharmgkbrs786204442
gwascentralrs786204442
openSNPrs786204442
23andMers786204442
23andMe allrs786204442
SNP Nexus

SNPshotrs786204442
SNPdbers786204442
MSV3drs786204442
GWAS Ctlgrs786204442
Max Magnitude4
rs786204442, also known as c.791A>G or p.K264R, 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 perinatal form of hypophosphatasia.


ClinVar
Risk rs786204442(G;G)
Alt rs786204442(G;G)
Reference rs786204442(A;A)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21894739A>G
CLNSRC
CLNACC RCV000169064.1,