rs137853338
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 2 | associated with MODY1; maturity onset of diabetes in the young (type 1) |
(T;T) | 0 | common in clinvar |
Make rs137853338(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 44424243 |
Gene | HNF4A |
is a | snp |
is | mentioned by |
dbSNP | rs137853338 |
dbSNP (classic) | rs137853338 |
ClinGen | rs137853338 |
ebi | rs137853338 |
HLI | rs137853338 |
Exac | rs137853338 |
Gnomad | rs137853338 |
Varsome | rs137853338 |
LitVar | rs137853338 |
Map | rs137853338 |
PheGenI | rs137853338 |
Biobank | rs137853338 |
1000 genomes | rs137853338 |
hgdp | rs137853338 |
ensembl | rs137853338 |
geneview | rs137853338 |
scholar | rs137853338 |
rs137853338 | |
pharmgkb | rs137853338 |
gwascentral | rs137853338 |
openSNP | rs137853338 |
23andMe | rs137853338 |
SNPshot | rs137853338 |
SNPdbe | rs137853338 |
MSV3d | rs137853338 |
GWAS Ctlg | rs137853338 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | rs137853338(G;G) |
Alt | rs137853338(G;G) |
Reference | Rs137853338(T;T) |
Significance | 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.43052883T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009796.4, |