rs1799857
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1799857(C;T) |
Make rs1799857(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 17430945 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs1799857 |
dbSNP (classic) | rs1799857 |
ClinGen | rs1799857 |
ebi | rs1799857 |
HLI | rs1799857 |
Exac | rs1799857 |
Gnomad | rs1799857 |
Varsome | rs1799857 |
LitVar | rs1799857 |
Map | rs1799857 |
PheGenI | rs1799857 |
Biobank | rs1799857 |
1000 genomes | rs1799857 |
hgdp | rs1799857 |
ensembl | rs1799857 |
geneview | rs1799857 |
scholar | rs1799857 |
rs1799857 | |
pharmgkb | rs1799857 |
gwascentral | rs1799857 |
openSNP | rs1799857 |
23andMe | rs1799857 |
SNPshot | rs1799857 |
SNPdbe | rs1799857 |
MSV3d | rs1799857 |
GWAS Ctlg | rs1799857 |
Max Magnitude | 0 |
[PMID 27677908] ABCC8 Single Nucleotide Polymorphisms are Associated with Cerebral Edema in Severe TBI.
ClinVar | |
---|---|
Risk | rs1799857(A;A) rs1799857(G;G) rs1799857(T;T) |
Alt | rs1799857(A;A) rs1799857(G;G) rs1799857(T;T) |
Reference | Rs1799857(C;C) |
Significance | Other |
Disease | not specified Transient Neonatal Diabetes Hyperinsulinism Permanent neonatal diabetes mellitus |
Variation | info |
Gene | ABCC8 |
CLNDBN | not specified Transient Neonatal Diabetes, Dominant Hyperinsulinism, Dominant/Recessive Permanent neonatal diabetes mellitus |
Reversed | 1 |
HGVS | NC_000011.9:g.17452492G>A |
CLNSRC | |
CLNACC | RCV000144979.2, RCV000302706.1, RCV000359236.1, RCV000402117.1, |