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rs121918239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a mutation for hypophosphatemic rickets with hypercalciuria
(G;G) 0 common in clinvar


Make rs121918239(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position137233404
GeneSLC34A3
is asnp
is mentioned by
dbSNPrs121918239
dbSNP (old)rs121918239
ClinGenrs121918239
ebirs121918239
HLIrs121918239
Exacrs121918239
Gnomadrs121918239
Varsomers121918239
Maprs121918239
PheGenIrs121918239
Biobankrs121918239
1000 genomesrs121918239
hgdprs121918239
ensemblrs121918239
gopubmedrs121918239
geneviewrs121918239
scholarrs121918239
googlers121918239
pharmgkbrs121918239
gwascentralrs121918239
openSNPrs121918239
23andMers121918239
23andMe allrs121918239
SNP Nexus

SNPshotrs121918239
SNPdbers121918239
MSV3drs121918239
GWAS Ctlgrs121918239
GMAF0.0004591
Max Magnitude3

rs121918239, also known as c.756G>A, is a relatively rare mutation in the SLC34A3 gene on chromosome 9.

The rs121918239(A) mutation is considered pathogenic for hypophosphatemic rickets with hypercalciuria, a recessively inherited condition.

OMIM609826
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918239(A;A)
Alt rs121918239(A;A)
Reference Rs121918239(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.140127856G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001499.4,