rs193922476
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCT;GCT) | 0 | common in clinvar |
Make rs193922476(GCT;TCAA) |
Make rs193922476(TCAA;TCAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 44418502 |
Gene | HNF4A |
is a | snp |
is | mentioned by |
dbSNP | rs193922476 |
dbSNP (classic) | rs193922476 |
ClinGen | rs193922476 |
ebi | rs193922476 |
HLI | rs193922476 |
Exac | rs193922476 |
Gnomad | rs193922476 |
Varsome | rs193922476 |
LitVar | rs193922476 |
Map | rs193922476 |
PheGenI | rs193922476 |
Biobank | rs193922476 |
1000 genomes | rs193922476 |
hgdp | rs193922476 |
ensembl | rs193922476 |
geneview | rs193922476 |
scholar | rs193922476 |
rs193922476 | |
pharmgkb | rs193922476 |
gwascentral | rs193922476 |
openSNP | rs193922476 |
23andMe | rs193922476 |
SNPshot | rs193922476 |
SNPdbe | rs193922476 |
MSV3d | rs193922476 |
GWAS Ctlg | rs193922476 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922476(TCAA;TCAA) |
Alt | rs193922476(TCAA;TCAA) |
Reference | Rs193922476(GCT;GCT) |
Significance | Probable-Pathogenic |
Disease | Maturity-onset diabetes of the young |
Variation | info |
Gene | HNF4A |
CLNDBN | Maturity-onset diabetes of the young, type 1 |
Reversed | 0 |
HGVS | NC_000020.10:g.43047142_43047144delGCTinsTCAA |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030026.1, |