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rs137853243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.6 Maturity onset of diabetes of the young (type 3)
Make rs137853243(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120988841
GeneHNF1A
is asnp
is mentioned by
dbSNPrs137853243
dbSNP (classic)rs137853243
ClinGenrs137853243
ebirs137853243
HLIrs137853243
Exacrs137853243
Gnomadrs137853243
Varsomers137853243
LitVarrs137853243
Maprs137853243
PheGenIrs137853243
Biobankrs137853243
1000 genomesrs137853243
hgdprs137853243
ensemblrs137853243
geneviewrs137853243
scholarrs137853243
googlers137853243
pharmgkbrs137853243
gwascentralrs137853243
openSNPrs137853243
23andMers137853243
SNPshotrs137853243
SNPdbers137853243
MSV3drs137853243
GWAS Ctlgrs137853243
Max Magnitude3.6
OMIM142410
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137853243(T;T)
Alt rs137853243(T;T)
Reference Rs137853243(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.121426644C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016080.26,