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rs138587317

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
Position21563248
GeneALPL
is asnp
is mentioned by
dbSNPrs138587317
ebirs138587317
HLIrs138587317
Exacrs138587317
Varsomers138587317
Maprs138587317
PheGenIrs138587317
hapmaprs138587317
1000 genomesrs138587317
hgdprs138587317
ensemblrs138587317
gopubmedrs138587317
geneviewrs138587317
scholarrs138587317
googlers138587317
pharmgkbrs138587317
gwascentralrs138587317
openSNPrs138587317
23andMers138587317
23andMe allrs138587317
SNP Nexus

SNPshotrs138587317
SNPdbers138587317
MSV3drs138587317
GWAS Ctlgrs138587317
Max Magnitude4
rs138587317, also known as c.436G>A or p.E146K, 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 asymptomatic, low BMD form of hypophosphatasia.

ClinVar
Risk rs138587317(A;A)
Alt rs138587317(A;A)
Reference rs138587317(G;G)
Significance Unknown
Disease not provided
Variation info
Gene ALPL
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.21889741G>A
CLNSRC
CLNACC RCV000178777.1,