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rs150799088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21577422
GeneALPL
is asnp
is mentioned by
dbSNPrs150799088
dbSNP (classic)rs150799088
ClinGenrs150799088
ebirs150799088
HLIrs150799088
Exacrs150799088
Gnomadrs150799088
Varsomers150799088
LitVarrs150799088
Maprs150799088
PheGenIrs150799088
Biobankrs150799088
1000 genomesrs150799088
hgdprs150799088
ensemblrs150799088
geneviewrs150799088
scholarrs150799088
googlers150799088
pharmgkbrs150799088
gwascentralrs150799088
openSNPrs150799088
23andMers150799088
SNPshotrs150799088
SNPdbers150799088
MSV3drs150799088
GWAS Ctlgrs150799088
Max Magnitude4

rs150799088, also known as c.1349G>A or p.R450H, 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 odonto. form of hypophosphatasia.

This SNP is referred to as i6006940 by 23andMe.

ClinVar
Risk Rs150799088(A;A)
Alt Rs150799088(A;A)
Reference Rs150799088(G;G)
Significance Unknown
Disease not specified
Variation info
Gene ALPL
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.21903915G>A
CLNSRC
CLNACC RCV000494080.1,