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rs566317085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
Make rs566317085(C;C)
Make rs566317085(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21568117
GeneALPL
is asnp
is mentioned by
dbSNPrs566317085
ebirs566317085
HLIrs566317085
Exacrs566317085
Varsomers566317085
Maprs566317085
PheGenIrs566317085
hapmaprs566317085
1000 genomesrs566317085
hgdprs566317085
ensemblrs566317085
gopubmedrs566317085
geneviewrs566317085
scholarrs566317085
googlers566317085
pharmgkbrs566317085
gwascentralrs566317085
openSNPrs566317085
23andMers566317085
23andMe allrs566317085
SNP Nexus

SNPshotrs566317085
SNPdbers566317085
MSV3drs566317085
GWAS Ctlgrs566317085
Max Magnitude4
rs566317085, also known as c.662G>T or p.G221V, 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 i6007018 by 23andMe.