Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918011

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
Position21563219
GeneALPL
is asnp
is mentioned by
dbSNPrs121918011
ebirs121918011
HLIrs121918011
Exacrs121918011
Varsomers121918011
Maprs121918011
PheGenIrs121918011
hapmaprs121918011
1000 genomesrs121918011
hgdprs121918011
ensemblrs121918011
gopubmedrs121918011
geneviewrs121918011
scholarrs121918011
googlers121918011
pharmgkbrs121918011
gwascentralrs121918011
openSNPrs121918011
23andMers121918011
23andMe allrs121918011
SNP Nexus

SNPshotrs121918011
SNPdbers121918011
MSV3drs121918011
GWAS Ctlgrs121918011
Max Magnitude4
rs121918011, also known as c.407G>A or p.R136H, 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.

OMIM171760
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918011(A;A)
Alt rs121918011(A;A)
Reference rs121918011(G;G)
Significance Pathogenic
Disease Childhood hypophosphatasia Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Childhood hypophosphatasia Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21889712G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014666.26, RCV000169168.1,