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

rs121918004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 4 hypophosphatasia
ReferenceGRCh38 38.1/141
Chromosome1
Position21564188
GeneALPL
is asnp
is mentioned by
dbSNPrs121918004
ebirs121918004
HLIrs121918004
Exacrs121918004
Varsomers121918004
Maprs121918004
PheGenIrs121918004
hapmaprs121918004
1000 genomesrs121918004
hgdprs121918004
ensemblrs121918004
gopubmedrs121918004
geneviewrs121918004
scholarrs121918004
googlers121918004
pharmgkbrs121918004
gwascentralrs121918004
openSNPrs121918004
23andMers121918004
23andMe allrs121918004
SNP Nexus

SNPshotrs121918004
SNPdbers121918004
MSV3drs121918004
GWAS Ctlgrs121918004
Max Magnitude4
rs121918004, also known as c.620A>C or p.Q207P, 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 i5002771 by 23andMe.

OMIM171760
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918004(C;C)
Alt rs121918004(C;C)
Reference rs121918004(A;A)
Significance Pathogenic
Disease Infantile hypophosphatasia not provided
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia not provided
Reversed 0
HGVS NC_000001.10:g.21890681A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014654.20, RCV000224906.1,