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rs121918237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 carrier of one hypophosphatemic bone disease allele
(G;G) 0 common in clinvar


Make rs121918237(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position137233234
GeneSLC34A3
is asnp
is mentioned by
dbSNPrs121918237
ebirs121918237
HLIrs121918237
Exacrs121918237
Varsomers121918237
Maprs121918237
PheGenIrs121918237
hapmaprs121918237
1000 genomesrs121918237
hgdprs121918237
ensemblrs121918237
gopubmedrs121918237
geneviewrs121918237
scholarrs121918237
googlers121918237
pharmgkbrs121918237
gwascentralrs121918237
openSNPrs121918237
23andMers121918237
23andMe allrs121918237
SNP Nexus

SNPshotrs121918237
SNPdbers121918237
MSV3drs121918237
GWAS Ctlgrs121918237
Max Magnitude3

rs121918237, also known as c.586G>A, p.Gly196Arg and G196R, represents a rare mutation in the SLC34A3 gene on chromosome 9. This is a very rare minor allele; observed only 2 times out of 26568 alleles in ExAC, 0 homozygotes, and a MAF of 0.000075.

A report published in 2006 indicates that the rare (A) allele was one of two compound heterozygote mutations inherited in recessive fashion together that led to hypophosphatemic bone disease.[PMID 16358214OA-icon.png]

See also OMIM 609826.0006

OMIM609826
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918237(A;A)
Alt rs121918237(A;A)
Reference rs121918237(G;G)
Significance Pathogenic
Disease Autosomal recessive hypophosphatemic bone disease
Variation info
Gene SLC34A3
CLNDBN Autosomal recessive hypophosphatemic bone disease
Reversed 0
HGVS NC_000009.11:g.140127686G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001496.3,