rs193922599
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GAA) | 3.6 | Mature onset diabetes of the young (type 3) |
(AGA;AGA) | 0 | common in clinvar |
(GAA;GAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs193922599(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 120993659 |
Gene | HNF1A |
is a | snp |
is | mentioned by |
dbSNP | rs193922599 |
dbSNP (classic) | rs193922599 |
ClinGen | rs193922599 |
ebi | rs193922599 |
HLI | rs193922599 |
Exac | rs193922599 |
Gnomad | rs193922599 |
Varsome | rs193922599 |
LitVar | rs193922599 |
Map | rs193922599 |
PheGenI | rs193922599 |
Biobank | rs193922599 |
1000 genomes | rs193922599 |
hgdp | rs193922599 |
ensembl | rs193922599 |
geneview | rs193922599 |
scholar | rs193922599 |
rs193922599 | |
pharmgkb | rs193922599 |
gwascentral | rs193922599 |
openSNP | rs193922599 |
23andMe | rs193922599 |
SNPshot | rs193922599 |
SNPdbe | rs193922599 |
MSV3d | rs193922599 |
GWAS Ctlg | rs193922599 |
Max Magnitude | 3.6 |
ClinVar | |
---|---|
Risk | rs193922599(-;-) |
Alt | rs193922599(-;-) |
Reference | Rs193922599(AGA;AGA) |
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.121431462_121431464delGAA |
CLNSRC | ClinVar |
CLNACC | RCV000030506.1, |