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rs756418235

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
Position21575865
GeneALPL
is asnp
is mentioned by
dbSNPrs756418235
ebirs756418235
HLIrs756418235
Exacrs756418235
Varsomers756418235
Maprs756418235
PheGenIrs756418235
hapmaprs756418235
1000 genomesrs756418235
hgdprs756418235
ensemblrs756418235
gopubmedrs756418235
geneviewrs756418235
scholarrs756418235
googlers756418235
pharmgkbrs756418235
gwascentralrs756418235
openSNPrs756418235
23andMers756418235
23andMe allrs756418235
SNP Nexus

SNPshotrs756418235
SNPdbers756418235
MSV3drs756418235
GWAS Ctlgrs756418235
Max Magnitude4
rs756418235, also known as c.1130C>T or p.A377V, 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.