rs150513055
From SNPedia
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 rs150513055(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 120988973 |
Gene | HNF1A |
is a | snp |
is | mentioned by |
dbSNP | rs150513055 |
dbSNP (classic) | rs150513055 |
ClinGen | rs150513055 |
ebi | rs150513055 |
HLI | rs150513055 |
Exac | rs150513055 |
Gnomad | rs150513055 |
Varsome | rs150513055 |
LitVar | rs150513055 |
Map | rs150513055 |
PheGenI | rs150513055 |
Biobank | rs150513055 |
1000 genomes | rs150513055 |
hgdp | rs150513055 |
ensembl | rs150513055 |
geneview | rs150513055 |
scholar | rs150513055 |
rs150513055 | |
pharmgkb | rs150513055 |
gwascentral | rs150513055 |
openSNP | rs150513055 |
23andMe | rs150513055 |
SNPshot | rs150513055 |
SNPdbe | rs150513055 |
MSV3d | rs150513055 |
GWAS Ctlg | rs150513055 |
Max Magnitude | 3.6 |
ClinVar | |
---|---|
Risk | rs150513055(A;A) rs150513055(T;T) |
Alt | rs150513055(A;A) rs150513055(T;T) |
Reference | Rs150513055(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.121426776C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030503.1, |