rs137853241
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 2 | associated with MODY3; maturity onset of diabetes in the young (type 3) |
Make rs137853241(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 121001155 |
Gene | HNF1A |
is a | snp |
is | mentioned by |
dbSNP | rs137853241 |
dbSNP (classic) | rs137853241 |
ClinGen | rs137853241 |
ebi | rs137853241 |
HLI | rs137853241 |
Exac | rs137853241 |
Gnomad | rs137853241 |
Varsome | rs137853241 |
LitVar | rs137853241 |
Map | rs137853241 |
PheGenI | rs137853241 |
Biobank | rs137853241 |
1000 genomes | rs137853241 |
hgdp | rs137853241 |
ensembl | rs137853241 |
geneview | rs137853241 |
scholar | rs137853241 |
rs137853241 | |
pharmgkb | rs137853241 |
gwascentral | rs137853241 |
openSNP | rs137853241 |
23andMe | rs137853241 |
SNPshot | rs137853241 |
SNPdbe | rs137853241 |
MSV3d | rs137853241 |
GWAS Ctlg | rs137853241 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | rs137853241(T;T) |
Alt | rs137853241(T;T) |
Reference | Rs137853241(C;C) |
Significance | 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.121438958C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016072.25, |