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rs202022405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
Make rs202022405(A;A)
Make rs202022405(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21575805
GeneALPL
is asnp
is mentioned by
dbSNPrs202022405
ebirs202022405
HLIrs202022405
Exacrs202022405
Varsomers202022405
Maprs202022405
PheGenIrs202022405
hapmaprs202022405
1000 genomesrs202022405
hgdprs202022405
ensemblrs202022405
gopubmedrs202022405
geneviewrs202022405
scholarrs202022405
googlers202022405
pharmgkbrs202022405
gwascentralrs202022405
openSNPrs202022405
23andMers202022405
23andMe allrs202022405
SNP Nexus

SNPshotrs202022405
SNPdbers202022405
MSV3drs202022405
GWAS Ctlgrs202022405
Max Magnitude4
rs202022405, also known as c.1070G>T or p.R357L, 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 asymptomatic, low BMD form of hypophosphatasia.