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rs193922480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922480(C;T)
Make rs193922480(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44424122
GeneHNF4A
is asnp
is mentioned by
dbSNPrs193922480
dbSNP (classic)rs193922480
ClinGenrs193922480
ebirs193922480
HLIrs193922480
Exacrs193922480
Gnomadrs193922480
Varsomers193922480
LitVarrs193922480
Maprs193922480
PheGenIrs193922480
Biobankrs193922480
1000 genomesrs193922480
hgdprs193922480
ensemblrs193922480
geneviewrs193922480
scholarrs193922480
googlers193922480
pharmgkbrs193922480
gwascentralrs193922480
openSNPrs193922480
23andMers193922480
SNPshotrs193922480
SNPdbers193922480
MSV3drs193922480
GWAS Ctlgrs193922480
Max Magnitude0
ClinVar
Risk rs193922480(T;T)
Alt rs193922480(T;T)
Reference Rs193922480(C;C)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene HNF4A
CLNDBN Maturity-onset diabetes of the young, type 1
Reversed 0
HGVS NC_000020.10:g.43052762C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030035.1,