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rs763159520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21564118
GeneALPL
is asnp
is mentioned by
dbSNPrs763159520
ebirs763159520
HLIrs763159520
Exacrs763159520
Varsomers763159520
Maprs763159520
PheGenIrs763159520
hapmaprs763159520
1000 genomesrs763159520
hgdprs763159520
ensemblrs763159520
gopubmedrs763159520
geneviewrs763159520
scholarrs763159520
googlers763159520
pharmgkbrs763159520
gwascentralrs763159520
openSNPrs763159520
23andMers763159520
23andMe allrs763159520
SNP Nexus

SNPshotrs763159520
SNPdbers763159520
MSV3drs763159520
GWAS Ctlgrs763159520
Max Magnitude4
rs763159520, also known as c.550C>T or p.R184W, 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 i6006925 by 23andMe.