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rs587777732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 associated with MODY1; maturity onset of diabetes in the young (type 1)
Make rs587777732(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position44406195
GeneHNF4A, MIR3646
is asnp
is mentioned by
dbSNPrs587777732
dbSNP (classic)rs587777732
ClinGenrs587777732
ebirs587777732
HLIrs587777732
Exacrs587777732
Gnomadrs587777732
Varsomers587777732
LitVarrs587777732
Maprs587777732
PheGenIrs587777732
Biobankrs587777732
1000 genomesrs587777732
hgdprs587777732
ensemblrs587777732
geneviewrs587777732
scholarrs587777732
googlers587777732
pharmgkbrs587777732
gwascentralrs587777732
openSNPrs587777732
23andMers587777732
SNPshotrs587777732
SNPdbers587777732
MSV3drs587777732
GWAS Ctlgrs587777732
Max Magnitude2
ClinVar
Risk rs587777732(T;T)
Alt rs587777732(T;T)
Reference Rs587777732(C;C)
Significance Pathogenic
Disease Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Hyperinsulinemia not provided
Variation info
Gene MIR3646 HNF4A
CLNDBN Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Hyperinsulinemia not provided
Reversed 0
HGVS NC_000020.10:g.43034835C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144170.4, RCV000193614.1, RCV000255966.1,