rs869320723
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869320723(-;C) |
Make rs869320723(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 3856143 |
Gene | GLIS3 |
is a | snp |
is | mentioned by |
dbSNP | rs869320723 |
dbSNP (classic) | rs869320723 |
ClinGen | rs869320723 |
ebi | rs869320723 |
HLI | rs869320723 |
Exac | rs869320723 |
Gnomad | rs869320723 |
Varsome | rs869320723 |
LitVar | rs869320723 |
Map | rs869320723 |
PheGenI | rs869320723 |
Biobank | rs869320723 |
1000 genomes | rs869320723 |
hgdp | rs869320723 |
ensembl | rs869320723 |
geneview | rs869320723 |
scholar | rs869320723 |
rs869320723 | |
pharmgkb | rs869320723 |
gwascentral | rs869320723 |
openSNP | rs869320723 |
23andMe | rs869320723 |
SNPshot | rs869320723 |
SNPdbe | rs869320723 |
MSV3d | rs869320723 |
GWAS Ctlg | rs869320723 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320723(C;C) |
Alt | rs869320723(C;C) |
Reference | Rs869320723(-;-) |
Significance | Pathogenic |
Disease | Diabetes mellitus |
Variation | info |
Gene | GLIS3 |
CLNDBN | Diabetes mellitus, neonatal, with congenital hypothyroidism |
Reversed | 1 |
HGVS | NC_000009.11:g.3856144dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001388.4, |