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rs34336420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs34336420(A;A)
Make rs34336420(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position10047996
GeneKLF11
is asnp
is mentioned by
dbSNPrs34336420
ebirs34336420
HLIrs34336420
Exacrs34336420
Varsomers34336420
Maprs34336420
PheGenIrs34336420
hapmaprs34336420
1000 genomesrs34336420
hgdprs34336420
ensemblrs34336420
gopubmedrs34336420
geneviewrs34336420
scholarrs34336420
googlers34336420
pharmgkbrs34336420
gwascentralrs34336420
openSNPrs34336420
23andMers34336420
23andMe allrs34336420
SNP Nexus

SNPshotrs34336420
SNPdbers34336420
MSV3drs34336420
GWAS Ctlgrs34336420
GMAF0.007805
Max Magnitude0
OMIM603301
Desc
Variant0002
Relatedalso


ClinVar
Risk rs34336420(A;A)
Alt rs34336420(A;A)
Reference rs34336420(G;G)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene KLF11
CLNDBN Maturity-onset diabetes of the young, type 7
Reversed 1
HGVS NC_000002.11:g.10188123C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006872.2,



[PMID 18593768OA-icon.png] Association analysis of Kruppel-like factor 11 variants with type 2 diabetes in Pima Indians.


GET Evidence
KLF11-T220M
aa_change Thr220Met
aa_change_short T220M
impact pathogenic
qualified_impact High clinical importance, Likely pathogenic
overall_frequency 0.0153374
summary Reported by Neve et al. to be a dominant cause of early-onset monogenic type II diabetes mellitus (maturity onset diabetes of the young). If true, carriers would be predicted to have a family history of diabetes. Florez et al. contradicted other findings in this gene made by Neve et al. for the Q62R polymorphism, and were unable to find any carriers of this rare variant (thus unable to investigate).