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rs137853239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853239(C;G)
Make rs137853239(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position120999606
GeneHNF1A
is asnp
is mentioned by
dbSNPrs137853239
ebirs137853239
HLIrs137853239
Exacrs137853239
Varsomers137853239
Maprs137853239
PheGenIrs137853239
hapmaprs137853239
1000 genomesrs137853239
hgdprs137853239
ensemblrs137853239
gopubmedrs137853239
geneviewrs137853239
scholarrs137853239
googlers137853239
pharmgkbrs137853239
gwascentralrs137853239
openSNPrs137853239
23andMers137853239
23andMe allrs137853239
SNP Nexus

SNPshotrs137853239
SNPdbers137853239
MSV3drs137853239
GWAS Ctlgrs137853239
Max Magnitude0
OMIM142410
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853239(G;G)
Alt rs137853239(G;G)
Reference rs137853239(C;C)
Significance Pathogenic
Disease Diabetes mellitus Maturity-onset diabetes of the young
Variation info
Gene HNF1A
CLNDBN Diabetes mellitus, insulin-dependent, 20 Maturity-onset diabetes of the young, type 3
Reversed 0
HGVS NC_000012.11:g.121437409C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016069.22, RCV000030492.1,


[PMID 9313763] Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.


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


[PMID 15016234] Molecular and biochemical analysis of the MODY syndromes.


[PMID 21236713] GCKR mutations in Japanese families with clustered type 2 diabetes.