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rs193922576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922576(-;-)
Make rs193922576(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position120996562
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922576
dbSNP (classic)rs193922576
ClinGenrs193922576
ebirs193922576
HLIrs193922576
Exacrs193922576
Gnomadrs193922576
Varsomers193922576
LitVarrs193922576
Maprs193922576
PheGenIrs193922576
Biobankrs193922576
1000 genomesrs193922576
hgdprs193922576
ensemblrs193922576
geneviewrs193922576
scholarrs193922576
googlers193922576
pharmgkbrs193922576
gwascentralrs193922576
openSNPrs193922576
23andMers193922576
SNPshotrs193922576
SNPdbers193922576
MSV3drs193922576
GWAS Ctlgrs193922576
Max Magnitude0
ClinVar
Risk rs193922576(-;-)
Alt rs193922576(-;-)
Reference Rs193922576(C;C)
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.121434365delC
CLNSRC ClinVar LabCorp
CLNACC RCV000030476.1,