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rs137853245

From SNPedia

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


Make rs137853245(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position120994277
GeneHNF1A
is asnp
is mentioned by
dbSNPrs137853245
ebirs137853245
HLIrs137853245
Exacrs137853245
Varsomers137853245
Maprs137853245
PheGenIrs137853245
hapmaprs137853245
1000 genomesrs137853245
hgdprs137853245
ensemblrs137853245
gopubmedrs137853245
geneviewrs137853245
scholarrs137853245
googlers137853245
pharmgkbrs137853245
gwascentralrs137853245
openSNPrs137853245
23andMers137853245
23andMe allrs137853245
SNP Nexus

SNPshotrs137853245
SNPdbers137853245
MSV3drs137853245
GWAS Ctlgrs137853245
Max Magnitude2
OMIM142410
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137853245(A,G;A,G)
Alt rs137853245(A,G;A,G)
Reference rs137853245(C;C)
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.121432080C>A; NC_000012.11:g.121432080C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016083.22, RCV000030513.1,


[PMID 18003757] The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.