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rs1800575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1800575(C;T)
Make rs1800575(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position37739455
GeneHNF1B
is asnp
is mentioned by
dbSNPrs1800575
dbSNP (classic)rs1800575
ClinGenrs1800575
ebirs1800575
HLIrs1800575
Exacrs1800575
Gnomadrs1800575
Varsomers1800575
LitVarrs1800575
Maprs1800575
PheGenIrs1800575
Biobankrs1800575
1000 genomesrs1800575
hgdprs1800575
ensemblrs1800575
geneviewrs1800575
scholarrs1800575
googlers1800575
pharmgkbrs1800575
gwascentralrs1800575
openSNPrs1800575
23andMers1800575
SNPshotrs1800575
SNPdbers1800575
MSV3drs1800575
GWAS Ctlgrs1800575
Max Magnitude0
OMIM189907
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1800575(T;T)
Alt rs1800575(T;T)
Reference Rs1800575(C;C)
Significance Pathogenic
Disease Familial hypoplastic
Variation info
Gene HNF1B
CLNDBN Familial hypoplastic, glomerulocystic kidney
Reversed 1
HGVS NC_000017.10:g.36099446G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013470.23,