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rs121918675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918675(A;A)
Make rs121918675(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position37739490
GeneHNF1B
is asnp
is mentioned by
dbSNPrs121918675
dbSNP (classic)rs121918675
ClinGenrs121918675
ebirs121918675
HLIrs121918675
Exacrs121918675
Gnomadrs121918675
Varsomers121918675
LitVarrs121918675
Maprs121918675
PheGenIrs121918675
Biobankrs121918675
1000 genomesrs121918675
hgdprs121918675
ensemblrs121918675
geneviewrs121918675
scholarrs121918675
googlers121918675
pharmgkbrs121918675
gwascentralrs121918675
openSNPrs121918675
23andMers121918675
SNPshotrs121918675
SNPdbers121918675
MSV3drs121918675
GWAS Ctlgrs121918675
Max Magnitude0
OMIM189907
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918675(A;A)
Alt rs121918675(A;A)
Reference Rs121918675(G;G)
Significance Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36099481C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013482.23,