rs193929381
From SNPedia
Merged into | rs80356664 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193929381(A;A) |
Make rs193929381(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2160878 |
Gene | INS, SIT1 |
is a | snp |
is | mentioned by |
dbSNP | rs193929381 |
dbSNP (classic) | rs193929381 |
ClinGen | rs193929381 |
ebi | rs193929381 |
HLI | rs193929381 |
Exac | rs193929381 |
Gnomad | rs193929381 |
Varsome | rs193929381 |
LitVar | rs193929381 |
Map | rs193929381 |
PheGenI | rs193929381 |
Biobank | rs193929381 |
1000 genomes | rs193929381 |
hgdp | rs193929381 |
ensembl | rs193929381 |
geneview | rs193929381 |
scholar | rs193929381 |
rs193929381 | |
pharmgkb | rs193929381 |
gwascentral | rs193929381 |
openSNP | rs193929381 |
23andMe | rs193929381 |
SNPshot | rs193929381 |
SNPdbe | rs193929381 |
MSV3d | rs193929381 |
GWAS Ctlg | rs193929381 |
Status | Merged into rs80356664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193929381(A;A) |
Alt | rs193929381(A;A) |
Reference | Rs193929381(G;G) |
Significance | Pathogenic |
Disease | Permanent neonatal diabetes mellitus |
Variation | info |
Gene | |
CLNDBN | Permanent neonatal diabetes mellitus |
Reversed | 1 |
HGVS | NC_000011.9:g.2182108C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000034565.1, |
[PMID 17047922] Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
[PMID 18171712] Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.