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rs199590449

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position21564110
GeneALPL
is asnp
is mentioned by
dbSNPrs199590449
ebirs199590449
HLIrs199590449
Exacrs199590449
Varsomers199590449
Maprs199590449
PheGenIrs199590449
hapmaprs199590449
1000 genomesrs199590449
hgdprs199590449
ensemblrs199590449
gopubmedrs199590449
geneviewrs199590449
scholarrs199590449
googlers199590449
pharmgkbrs199590449
gwascentralrs199590449
openSNPrs199590449
23andMers199590449
23andMe allrs199590449
SNP Nexus

SNPshotrs199590449
SNPdbers199590449
MSV3drs199590449
GWAS Ctlgrs199590449
Max Magnitude4
rs199590449, also known as c.542C>T or p.S181L, 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 infantile form of hypophosphatasia.

This SNP is referred to as i6007029 by 23andMe.


ClinVar
Risk rs199590449(T;T)
Alt rs199590449(T;T)
Reference rs199590449(C;C)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21890603C>T
CLNSRC
CLNACC RCV000169128.1,