rs193922598

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3.6	Mature onset diabetes of the young (type 3)

Make rs193922598(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120993591

Gene

HNF1A

is a	snp
is	mentioned by
dbSNP	rs193922598
dbSNP (classic)	rs193922598
ClinGen	rs193922598
ebi	rs193922598
HLI	rs193922598
Exac	rs193922598
Gnomad	rs193922598
Varsome	rs193922598
LitVar	rs193922598
Map	rs193922598
PheGenI	rs193922598
Biobank	rs193922598
1000 genomes	rs193922598
hgdp	rs193922598
ensembl	rs193922598
geneview	rs193922598
scholar	rs193922598
google	rs193922598
pharmgkb	rs193922598
gwascentral	rs193922598
openSNP	rs193922598
23andMe	rs193922598
SNPshot	rs193922598
SNPdbe	rs193922598
MSV3d	rs193922598
GWAS Ctlg	rs193922598

Max Magnitude

3.6

ClinVar
Risk	rs193922598(T;T)
Alt	rs193922598(T;T)
Reference	Rs193922598(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.121431394C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030505.1,

[PMID 120502] [Current information on treatment and prophylaxis of malaria (author's transl)].

[PMID 9754819] Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.

[PMID 12453420] Diabetes mutations delineate an atypical POU domain in HNF-1alpha.

[PMID 15726414] Homeodomain revisited: a lesson from disease-causing mutations.

[PMID 16274290] Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.

[PMID 17924661] Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.