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rs1169305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 2 associated with MODY3; maturity onset of diabetes in the young (type 3)
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position120999579
GeneHNF1A
is asnp
is mentioned by
dbSNPrs1169305
dbSNP (classic)rs1169305
ClinGenrs1169305
ebirs1169305
HLIrs1169305
Exacrs1169305
Gnomadrs1169305
Varsomers1169305
LitVarrs1169305
Maprs1169305
PheGenIrs1169305
Biobankrs1169305
1000 genomesrs1169305
hgdprs1169305
ensemblrs1169305
geneviewrs1169305
scholarrs1169305
googlers1169305
pharmgkbrs1169305
gwascentralrs1169305
openSNPrs1169305
23andMers1169305
SNPshotrs1169305
SNPdbers1169305
MSV3drs1169305
GWAS Ctlgrs1169305
GMAF0.009183
Max Magnitude2

now considered benign in ClinVar

? (C;C) (C;T) (T;T) 28


OMIM142410
DescHEPATIC ADENOMA
Variant0013
Relatedalso



ClinVar
Risk Rs1169305(C;C)
Alt Rs1169305(C;C)
Reference Rs1169305(T;T)
Significance Non-pathogenic
Disease Maturity-onset diabetes of the young not specified
Variation info
Gene HNF1A
CLNDBN Maturity-onset diabetes of the young, type 3 not specified
Reversed 1
HGVS NC_000012.11:g.121437382A\x3d; NC_000012.11:g.121437382A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016077.25, RCV000438436.1, RCV000030490.2, RCV000121200.1,