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rs768555495

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
Position21573722
GeneALPL
is asnp
is mentioned by
dbSNPrs768555495
ClinGenrs768555495
ebirs768555495
HLIrs768555495
Exacrs768555495
Varsomers768555495
Maprs768555495
PheGenIrs768555495
hapmaprs768555495
1000 genomesrs768555495
hgdprs768555495
ensemblrs768555495
gopubmedrs768555495
geneviewrs768555495
scholarrs768555495
googlers768555495
pharmgkbrs768555495
gwascentralrs768555495
openSNPrs768555495
23andMers768555495
23andMe allrs768555495
SNP Nexus

SNPshotrs768555495
SNPdbers768555495
MSV3drs768555495
GWAS Ctlgrs768555495
Max Magnitude4
rs768555495, also known as c.920C>T or p.P307L, 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.

This SNP is referred to as i6006921 by 23andMe.

ClinVar
Risk Rs768555495(T;T)
Alt Rs768555495(T;T)
Reference Rs768555495(C;C)
Significance Unknown
Disease not specified
Variation info
Gene ALPL
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.21900215C>T
CLNSRC
CLNACC RCV000322603.1,