Have questions? Visit https://www.reddit.com/r/SNPedia

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
ebirs1169305
HLIrs1169305
Exacrs1169305
Varsomers1169305
Maprs1169305
PheGenIrs1169305
hapmaprs1169305
1000 genomesrs1169305
hgdprs1169305
ensemblrs1169305
gopubmedrs1169305
geneviewrs1169305
scholarrs1169305
googlers1169305
pharmgkbrs1169305
gwascentralrs1169305
openSNPrs1169305
23andMers1169305
23andMe allrs1169305
SNP Nexus

SNPshotrs1169305
SNPdbers1169305
MSV3drs1169305
GWAS Ctlgrs1169305
GMAF0.009183
Max Magnitude2
? (C;C) (C;T) (T;T) 28
OMIM142410
DescHEPATIC ADENOMA
Variant0013
Relatedalso


Venter snp
Source plos
Gene TCF1
allele G
frequency 1
sift TOLERATED
HuRef 1103649555027
Disease Association Defects in TCF1 are a cause of susceptibility to insulin- dependent diabetes mellitus (IDDM) (MIM:222100).



ClinVar
Risk rs1169305(C;C)
Alt rs1169305(C;C)
Reference rs1169305(T;T)
Significance 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, RCV000030490.2, RCV000121200.1,



GET Evidence
HNF1A-S574G
aa_change Ser574Gly
aa_change_short S574G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.986287
summary