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rs748031071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21564197
GeneALPL
is asnp
is mentioned by
dbSNPrs748031071
ebirs748031071
HLIrs748031071
Exacrs748031071
Varsomers748031071
Maprs748031071
PheGenIrs748031071
hapmaprs748031071
1000 genomesrs748031071
hgdprs748031071
ensemblrs748031071
gopubmedrs748031071
geneviewrs748031071
scholarrs748031071
googlers748031071
pharmgkbrs748031071
gwascentralrs748031071
openSNPrs748031071
23andMers748031071
23andMe allrs748031071
SNP Nexus

SNPshotrs748031071
SNPdbers748031071
MSV3drs748031071
GWAS Ctlgrs748031071
Max Magnitude4
rs748031071, also known as c.629A>G or p.H210R, 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 childhood form of hypophosphatasia.