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rs121918672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918672(C;T)
Make rs121918672(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position37731814
GeneHNF1B
is asnp
is mentioned by
dbSNPrs121918672
dbSNP (classic)rs121918672
ClinGenrs121918672
ebirs121918672
HLIrs121918672
Exacrs121918672
Gnomadrs121918672
Varsomers121918672
LitVarrs121918672
Maprs121918672
PheGenIrs121918672
Biobankrs121918672
1000 genomesrs121918672
hgdprs121918672
ensemblrs121918672
geneviewrs121918672
scholarrs121918672
googlers121918672
pharmgkbrs121918672
gwascentralrs121918672
openSNPrs121918672
23andMers121918672
SNPshotrs121918672
SNPdbers121918672
MSV3drs121918672
GWAS Ctlgrs121918672
Max Magnitude0
OMIM189907
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918672(T;T)
Alt rs121918672(T;T)
Reference Rs121918672(C;C)
Significance Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36091805G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013475.21,