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rs121918234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918234(G;T)
Make rs121918234(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position137234241
GeneSLC34A3
is asnp
is mentioned by
dbSNPrs121918234
dbSNP (classic)rs121918234
ClinGenrs121918234
ebirs121918234
HLIrs121918234
Exacrs121918234
Gnomadrs121918234
Varsomers121918234
LitVarrs121918234
Maprs121918234
PheGenIrs121918234
Biobankrs121918234
1000 genomesrs121918234
hgdprs121918234
ensemblrs121918234
geneviewrs121918234
scholarrs121918234
googlers121918234
pharmgkbrs121918234
gwascentralrs121918234
openSNPrs121918234
23andMers121918234
SNPshotrs121918234
SNPdbers121918234
MSV3drs121918234
GWAS Ctlgrs121918234
Max Magnitude0
OMIM609826
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918234(A;A) rs121918234(C;C) rs121918234(T;T)
Alt rs121918234(A;A) rs121918234(C;C) rs121918234(T;T)
Reference Rs121918234(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.140128693G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001492.3,