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rs121918000

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome1
Position21564103
GeneALPL
is asnp
is mentioned by
dbSNPrs121918000
ebirs121918000
HLIrs121918000
Exacrs121918000
Varsomers121918000
Maprs121918000
PheGenIrs121918000
hapmaprs121918000
1000 genomesrs121918000
hgdprs121918000
ensemblrs121918000
gopubmedrs121918000
geneviewrs121918000
scholarrs121918000
googlers121918000
pharmgkbrs121918000
gwascentralrs121918000
openSNPrs121918000
23andMers121918000
23andMe allrs121918000
SNP Nexus

SNPshotrs121918000
SNPdbers121918000
MSV3drs121918000
GWAS Ctlgrs121918000
Max Magnitude4
rs121918000, also known as c.535G>A or p.A179T, 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 i5002757 by 23andMe.

OMIM171760
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918000(A;A)
Alt rs121918000(A;A)
Reference rs121918000(G;G)
Significance Other
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21890596G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014648.26,