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rs199669988

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
Position21564097
GeneALPL
is asnp
is mentioned by
dbSNPrs199669988
ebirs199669988
HLIrs199669988
Exacrs199669988
Varsomers199669988
Maprs199669988
PheGenIrs199669988
hapmaprs199669988
1000 genomesrs199669988
hgdprs199669988
ensemblrs199669988
gopubmedrs199669988
geneviewrs199669988
scholarrs199669988
googlers199669988
pharmgkbrs199669988
gwascentralrs199669988
openSNPrs199669988
23andMers199669988
23andMe allrs199669988
SNP Nexus

SNPshotrs199669988
SNPdbers199669988
MSV3drs199669988
GWAS Ctlgrs199669988
Max Magnitude4
rs199669988, also known as c.529G>A or p.A177T, 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 adult form of hypophosphatasia.

This SNP is referred to as i6006948 by 23andMe.