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rs745830614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21573779
GeneALPL
is asnp
is mentioned by
dbSNPrs745830614
ebirs745830614
HLIrs745830614
Exacrs745830614
Varsomers745830614
Maprs745830614
PheGenIrs745830614
hapmaprs745830614
1000 genomesrs745830614
hgdprs745830614
ensemblrs745830614
gopubmedrs745830614
geneviewrs745830614
scholarrs745830614
googlers745830614
pharmgkbrs745830614
gwascentralrs745830614
openSNPrs745830614
23andMers745830614
23andMe allrs745830614
SNP Nexus

SNPshotrs745830614
SNPdbers745830614
MSV3drs745830614
GWAS Ctlgrs745830614
Max Magnitude4
rs745830614, also known as c.977G>T or p.G326V, 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.

This SNP is referred to as i6007004 by 23andMe.