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rs137853242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 2 associated with MODY3; maturity onset of diabetes in the young (type 3)
(G;G) 0 common in clinvar


Make rs137853242(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position120999607
GeneHNF1A
is asnp
is mentioned by
dbSNPrs137853242
ebirs137853242
HLIrs137853242
Exacrs137853242
Varsomers137853242
Maprs137853242
PheGenIrs137853242
hapmaprs137853242
1000 genomesrs137853242
hgdprs137853242
ensemblrs137853242
gopubmedrs137853242
geneviewrs137853242
scholarrs137853242
googlers137853242
pharmgkbrs137853242
gwascentralrs137853242
openSNPrs137853242
23andMers137853242
23andMe allrs137853242
SNP Nexus

SNPshotrs137853242
SNPdbers137853242
MSV3drs137853242
GWAS Ctlgrs137853242
Max Magnitude2
OMIM142410
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137853242(A;A)
Alt rs137853242(A;A)
Reference rs137853242(G;G)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene HNF1A
CLNDBN Maturity-onset diabetes of the young, type 3
Reversed 0
HGVS NC_000012.11:g.121437410G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016078.28,


[PMID 91120] Supine-lateral approach versus sitting operation--statistical analysis of brainstem cranial nerve and cerebellar function in 165 acoustic neurinomas.


[PMID 10333057] Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.


[PMID 11942313] To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123.


[PMID 12355088] Bi-allelic inactivation of TCF1 in hepatic adenomas.


[PMID 12359128] The role of transcription factors in maturity-onset diabetes of the young.


[PMID 16917892] Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.