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rs199665722

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
Position21568123
GeneALPL
is asnp
is mentioned by
dbSNPrs199665722
ebirs199665722
HLIrs199665722
Exacrs199665722
Varsomers199665722
Maprs199665722
PheGenIrs199665722
hapmaprs199665722
1000 genomesrs199665722
hgdprs199665722
ensemblrs199665722
gopubmedrs199665722
geneviewrs199665722
scholarrs199665722
googlers199665722
pharmgkbrs199665722
gwascentralrs199665722
openSNPrs199665722
23andMers199665722
23andMe allrs199665722
SNP Nexus

SNPshotrs199665722
SNPdbers199665722
MSV3drs199665722
GWAS Ctlgrs199665722
Max Magnitude4
rs199665722, also known as c.668G>A or p.R223Q, 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 i6006951 by 23andMe.