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rs121918238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918238(C;T)
Make rs121918238(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position137236018
GeneSLC34A3
is asnp
is mentioned by
dbSNPrs121918238
dbSNP (classic)rs121918238
ClinGenrs121918238
ebirs121918238
HLIrs121918238
Exacrs121918238
Gnomadrs121918238
Varsomers121918238
LitVarrs121918238
Maprs121918238
PheGenIrs121918238
Biobankrs121918238
1000 genomesrs121918238
hgdprs121918238
ensemblrs121918238
geneviewrs121918238
scholarrs121918238
googlers121918238
pharmgkbrs121918238
gwascentralrs121918238
openSNPrs121918238
23andMers121918238
SNPshotrs121918238
SNPdbers121918238
MSV3drs121918238
GWAS Ctlgrs121918238
Max Magnitude0
OMIM609826
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918238(A;A) rs121918238(T;T)
Alt rs121918238(A;A) rs121918238(T;T)
Reference Rs121918238(C;C)
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.140130470C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001497.3,