rs193922602
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3.6 | Mature onset diabetes of the young (type 3) |
Make rs193922602(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 120994181 |
Gene | HNF1A |
is a | snp |
is | mentioned by |
dbSNP | rs193922602 |
dbSNP (classic) | rs193922602 |
ClinGen | rs193922602 |
ebi | rs193922602 |
HLI | rs193922602 |
Exac | rs193922602 |
Gnomad | rs193922602 |
Varsome | rs193922602 |
LitVar | rs193922602 |
Map | rs193922602 |
PheGenI | rs193922602 |
Biobank | rs193922602 |
1000 genomes | rs193922602 |
hgdp | rs193922602 |
ensembl | rs193922602 |
geneview | rs193922602 |
scholar | rs193922602 |
rs193922602 | |
pharmgkb | rs193922602 |
gwascentral | rs193922602 |
openSNP | rs193922602 |
23andMe | rs193922602 |
SNPshot | rs193922602 |
SNPdbe | rs193922602 |
MSV3d | rs193922602 |
GWAS Ctlg | rs193922602 |
Max Magnitude | 3.6 |
ClinVar | |
---|---|
Risk | rs193922602(T;T) |
Alt | rs193922602(T;T) |
Reference | Rs193922602(G;G) |
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.121431984G>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030509.1, |
[PMID 21224407] Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.