rs193922479
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922479(C;T) |
Make rs193922479(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 44424116 |
Gene | HNF4A |
is a | snp |
is | mentioned by |
dbSNP | rs193922479 |
dbSNP (classic) | rs193922479 |
ClinGen | rs193922479 |
ebi | rs193922479 |
HLI | rs193922479 |
Exac | rs193922479 |
Gnomad | rs193922479 |
Varsome | rs193922479 |
LitVar | rs193922479 |
Map | rs193922479 |
PheGenI | rs193922479 |
Biobank | rs193922479 |
1000 genomes | rs193922479 |
hgdp | rs193922479 |
ensembl | rs193922479 |
geneview | rs193922479 |
scholar | rs193922479 |
rs193922479 | |
pharmgkb | rs193922479 |
gwascentral | rs193922479 |
openSNP | rs193922479 |
23andMe | rs193922479 |
SNPshot | rs193922479 |
SNPdbe | rs193922479 |
MSV3d | rs193922479 |
GWAS Ctlg | rs193922479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922479(T;T) |
Alt | rs193922479(T;T) |
Reference | Rs193922479(C;C) |
Significance | Probable-Pathogenic |
Disease | Maturity-onset diabetes of the young Hyperinsulinemia |
Variation | info |
Gene | HNF4A |
CLNDBN | Maturity-onset diabetes of the young, type 1 Hyperinsulinemia |
Reversed | 0 |
HGVS | NC_000020.10:g.43052756C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030034.1, RCV000193933.1, |
[PMID 16917892] Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.