rs137852673
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852673(C;T) |
Make rs137852673(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17395915 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs137852673 |
dbSNP (classic) | rs137852673 |
ClinGen | rs137852673 |
ebi | rs137852673 |
HLI | rs137852673 |
Exac | rs137852673 |
Gnomad | rs137852673 |
Varsome | rs137852673 |
LitVar | rs137852673 |
Map | rs137852673 |
PheGenI | rs137852673 |
Biobank | rs137852673 |
1000 genomes | rs137852673 |
hgdp | rs137852673 |
ensembl | rs137852673 |
geneview | rs137852673 |
scholar | rs137852673 |
rs137852673 | |
pharmgkb | rs137852673 |
gwascentral | rs137852673 |
openSNP | rs137852673 |
23andMe | rs137852673 |
SNPshot | rs137852673 |
SNPdbe | rs137852673 |
MSV3d | rs137852673 |
GWAS Ctlg | rs137852673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852673(A;A) rs137852673(T;T) |
Alt | rs137852673(A;A) rs137852673(T;T) |
Reference | Rs137852673(C;C) |
Significance | Pathogenic |
Disease | Transient neonatal diabetes mellitus 2 Diabetes mellitus type 2 Neonatal diabetes mellitus |
Variation | info |
Gene | ABCC8 |
CLNDBN | Transient neonatal diabetes mellitus 2 Diabetes mellitus type 2 Neonatal diabetes mellitus |
Reversed | 1 |
HGVS | NC_000011.9:g.17417462G>A; NC_000011.9:g.17417462G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009673.3, RCV000009674.3, RCV000029261.1, |