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rs786204634

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
Position21570321
GeneALPL
is asnp
is mentioned by
dbSNPrs786204634
ebirs786204634
HLIrs786204634
Exacrs786204634
Varsomers786204634
Maprs786204634
PheGenIrs786204634
hapmaprs786204634
1000 genomesrs786204634
hgdprs786204634
ensemblrs786204634
gopubmedrs786204634
geneviewrs786204634
scholarrs786204634
googlers786204634
pharmgkbrs786204634
gwascentralrs786204634
openSNPrs786204634
23andMers786204634
23andMe allrs786204634
SNP Nexus

SNPshotrs786204634
SNPdbers786204634
MSV3drs786204634
GWAS Ctlgrs786204634
Max Magnitude4
rs786204634, also known as c.809G>A or p.W270X, 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.

This SNP is referred to as i6007032 by 23andMe.


ClinVar
Risk rs786204634(A;A)
Alt rs786204634(A;A)
Reference rs786204634(G;G)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21896814G>A
CLNSRC
CLNACC RCV000169412.1,