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rs121918674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918674(C;G)
Make rs121918674(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position37739541
GeneHNF1B
is asnp
is mentioned by
dbSNPrs121918674
dbSNP (classic)rs121918674
ClinGenrs121918674
ebirs121918674
HLIrs121918674
Exacrs121918674
Gnomadrs121918674
Varsomers121918674
LitVarrs121918674
Maprs121918674
PheGenIrs121918674
Biobankrs121918674
1000 genomesrs121918674
hgdprs121918674
ensemblrs121918674
geneviewrs121918674
scholarrs121918674
googlers121918674
pharmgkbrs121918674
gwascentralrs121918674
openSNPrs121918674
23andMers121918674
SNPshotrs121918674
SNPdbers121918674
MSV3drs121918674
GWAS Ctlgrs121918674
Max Magnitude0
OMIM189907
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918674(G;G)
Alt rs121918674(G;G)
Reference Rs121918674(C;C)
Significance Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36099532G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013480.22,