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rs121918007

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
Position21564139
GeneALPL
is asnp
is mentioned by
dbSNPrs121918007
ebirs121918007
HLIrs121918007
Exacrs121918007
Varsomers121918007
Maprs121918007
PheGenIrs121918007
hapmaprs121918007
1000 genomesrs121918007
hgdprs121918007
ensemblrs121918007
gopubmedrs121918007
geneviewrs121918007
scholarrs121918007
googlers121918007
pharmgkbrs121918007
gwascentralrs121918007
openSNPrs121918007
23andMers121918007
23andMe allrs121918007
SNP Nexus

SNPshotrs121918007
SNPdbers121918007
MSV3drs121918007
GWAS Ctlgrs121918007
GMAF0.001377
Max Magnitude4

rs121918007, also known as c.571G>A, p.Glu191Lys, E191K, p.Glu174Lys and E174K, is a mutation in the ALPL gene on chromosome 1. The rare rs121918007(A) allele is associated with relatively mild (childhood, adult and odonto-) hypophosphatasia.[1]

This mutation may be the most common hypophosphatasia mutation in Caucasians. Because all E174K mutations are carried by a common ancestral haplotype, it appears to be a relatively ancient ancestral mutation that occurred on a single chromosome in the north of Western Europe, which then spread throughout the rest of Europe and into the New World as a result of human migration.[PMID 12357339]

This SNP is referred to as i5012684 by 23andMe.

OMIM171760
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918007(A;A)
Alt rs121918007(A;A)
Reference rs121918007(G;G)
Significance Pathogenic
Disease Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided
Reversed 0
HGVS NC_000001.10:g.21890632G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014658.27, RCV000014659.25, RCV000014660.26, RCV000207183.1, RCV000224962.1,