rs193922580

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 rs193922580(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120997588

Gene

HNF1A

is a	snp
is	mentioned by
dbSNP	rs193922580
dbSNP (classic)	rs193922580
ClinGen	rs193922580
ebi	rs193922580
HLI	rs193922580
Exac	rs193922580
Gnomad	rs193922580
Varsome	rs193922580
LitVar	rs193922580
Map	rs193922580
PheGenI	rs193922580
Biobank	rs193922580
1000 genomes	rs193922580
hgdp	rs193922580
ensembl	rs193922580
geneview	rs193922580
scholar	rs193922580
google	rs193922580
pharmgkb	rs193922580
gwascentral	rs193922580
openSNP	rs193922580
23andMe	rs193922580
SNPshot	rs193922580
SNPdbe	rs193922580
MSV3d	rs193922580
GWAS Ctlg	rs193922580

Max Magnitude

3.6

ClinVar
Risk	rs193922580(A;A) rs193922580(T;T)
Alt	rs193922580(A;A) rs193922580(T;T)
Reference	Rs193922580(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.121435391C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030481.1,

[PMID 18811724] Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus.