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rs193922591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922591(C;T)
Make rs193922591(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position121001150
GeneHNF1A
is asnp
is mentioned by
dbSNPrs193922591
dbSNP (classic)rs193922591
ClinGenrs193922591
ebirs193922591
HLIrs193922591
Exacrs193922591
Gnomadrs193922591
Varsomers193922591
LitVarrs193922591
Maprs193922591
PheGenIrs193922591
Biobankrs193922591
1000 genomesrs193922591
hgdprs193922591
ensemblrs193922591
geneviewrs193922591
scholarrs193922591
googlers193922591
pharmgkbrs193922591
gwascentralrs193922591
openSNPrs193922591
23andMers193922591
SNPshotrs193922591
SNPdbers193922591
MSV3drs193922591
GWAS Ctlgrs193922591
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs193922591(G;G) rs193922591(T;T)
Alt rs193922591(G;G) rs193922591(T;T)
Reference Rs193922591(C;C)
Significance Untested
Disease Maturity-onset diabetes of the young not specified
Variation info
Gene HNF1A
CLNDBN Maturity-onset diabetes of the young, type 3 not specified
Reversed 0
HGVS NC_000012.11:g.121438953C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030494.1, RCV000121192.1,


[PMID 10588527] Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.