rs587777732
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 2 | associated with MODY1; maturity onset of diabetes in the young (type 1) |
Make rs587777732(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 44406195 |
Gene | HNF4A, MIR3646 |
is a | snp |
is | mentioned by |
dbSNP | rs587777732 |
dbSNP (classic) | rs587777732 |
ClinGen | rs587777732 |
ebi | rs587777732 |
HLI | rs587777732 |
Exac | rs587777732 |
Gnomad | rs587777732 |
Varsome | rs587777732 |
LitVar | rs587777732 |
Map | rs587777732 |
PheGenI | rs587777732 |
Biobank | rs587777732 |
1000 genomes | rs587777732 |
hgdp | rs587777732 |
ensembl | rs587777732 |
geneview | rs587777732 |
scholar | rs587777732 |
rs587777732 | |
pharmgkb | rs587777732 |
gwascentral | rs587777732 |
openSNP | rs587777732 |
23andMe | rs587777732 |
SNPshot | rs587777732 |
SNPdbe | rs587777732 |
MSV3d | rs587777732 |
GWAS Ctlg | rs587777732 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | rs587777732(T;T) |
Alt | rs587777732(T;T) |
Reference | Rs587777732(C;C) |
Significance | Pathogenic |
Disease | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Hyperinsulinemia not provided |
Variation | info |
Gene | MIR3646 HNF4A |
CLNDBN | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Hyperinsulinemia not provided |
Reversed | 0 |
HGVS | NC_000020.10:g.43034835C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144170.4, RCV000193614.1, RCV000255966.1, |