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rs200621180

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
Position21563266
GeneALPL
is asnp
is mentioned by
dbSNPrs200621180
ebirs200621180
HLIrs200621180
Exacrs200621180
Varsomers200621180
Maprs200621180
PheGenIrs200621180
hapmaprs200621180
1000 genomesrs200621180
hgdprs200621180
ensemblrs200621180
gopubmedrs200621180
geneviewrs200621180
scholarrs200621180
googlers200621180
pharmgkbrs200621180
gwascentralrs200621180
openSNPrs200621180
23andMers200621180
23andMe allrs200621180
SNP Nexus

SNPshotrs200621180
SNPdbers200621180
MSV3drs200621180
GWAS Ctlgrs200621180
Max Magnitude4
rs200621180, also known as c.454C>T or p.R152C, 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.