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rs193922599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs193922599(-;-)
Make rs193922599(-;GAA)
ReferenceGRCh38 38.1/141
Chromosome12
Position120993659
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922599
ebirs193922599
HLIrs193922599
Exacrs193922599
Varsomers193922599
Maprs193922599
PheGenIrs193922599
hapmaprs193922599
1000 genomesrs193922599
hgdprs193922599
ensemblrs193922599
gopubmedrs193922599
geneviewrs193922599
scholarrs193922599
googlers193922599
pharmgkbrs193922599
gwascentralrs193922599
openSNPrs193922599
23andMers193922599
23andMe allrs193922599
SNP Nexus

SNPshotrs193922599
SNPdbers193922599
MSV3drs193922599
GWAS Ctlgrs193922599
Max Magnitude0
ClinVar
Risk rs193922599(;)
Alt rs193922599(;)
Reference rs193922599(AGA;AGA)
Significance Probable-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.121431462_121431464delGAA
CLNSRC ClinVar
CLNACC RCV000030506.1,