rs1060499693
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1060499693(A;A) |
Make rs1060499693(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 44418482 |
Gene | HNF4A |
is a | snp |
is | mentioned by |
dbSNP | rs1060499693 |
dbSNP (classic) | rs1060499693 |
ClinGen | rs1060499693 |
ebi | rs1060499693 |
HLI | rs1060499693 |
Exac | rs1060499693 |
Gnomad | rs1060499693 |
Varsome | rs1060499693 |
LitVar | rs1060499693 |
Map | rs1060499693 |
PheGenI | rs1060499693 |
Biobank | rs1060499693 |
1000 genomes | rs1060499693 |
hgdp | rs1060499693 |
ensembl | rs1060499693 |
geneview | rs1060499693 |
scholar | rs1060499693 |
rs1060499693 | |
pharmgkb | rs1060499693 |
gwascentral | rs1060499693 |
openSNP | rs1060499693 |
23andMe | rs1060499693 |
SNPshot | rs1060499693 |
SNPdbe | rs1060499693 |
MSV3d | rs1060499693 |
GWAS Ctlg | rs1060499693 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499693(A;A) |
Alt | rs1060499693(A;A) |
Reference | Rs1060499693(T;T) |
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.43047122T>A |
CLNSRC | |
CLNACC | RCV000449632.1, |