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rs757771793

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
Position21563206
GeneALPL
is asnp
is mentioned by
dbSNPrs757771793
ebirs757771793
HLIrs757771793
Exacrs757771793
Varsomers757771793
Maprs757771793
PheGenIrs757771793
hapmaprs757771793
1000 genomesrs757771793
hgdprs757771793
ensemblrs757771793
gopubmedrs757771793
geneviewrs757771793
scholarrs757771793
googlers757771793
pharmgkbrs757771793
gwascentralrs757771793
openSNPrs757771793
23andMers757771793
23andMe allrs757771793
SNP Nexus

SNPshotrs757771793
SNPdbers757771793
MSV3drs757771793
GWAS Ctlgrs757771793
Max Magnitude4
rs757771793, also known as c.394G>A or p.A132T, 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.