rs121909735
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121909735(A;C) |
Make rs121909735(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87060928 |
Gene | GLUD1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909735 |
dbSNP (classic) | rs121909735 |
ClinGen | rs121909735 |
ebi | rs121909735 |
HLI | rs121909735 |
Exac | rs121909735 |
Gnomad | rs121909735 |
Varsome | rs121909735 |
LitVar | rs121909735 |
Map | rs121909735 |
PheGenI | rs121909735 |
Biobank | rs121909735 |
1000 genomes | rs121909735 |
hgdp | rs121909735 |
ensembl | rs121909735 |
geneview | rs121909735 |
scholar | rs121909735 |
rs121909735 | |
pharmgkb | rs121909735 |
gwascentral | rs121909735 |
openSNP | rs121909735 |
23andMe | rs121909735 |
SNPshot | rs121909735 |
SNPdbe | rs121909735 |
MSV3d | rs121909735 |
GWAS Ctlg | rs121909735 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909735(C;C) |
Alt | rs121909735(C;C) |
Reference | Rs121909735(A;A) |
Significance | Pathogenic |
Disease | Hyperinsulinism-hyperammonemia syndrome |
Variation | info |
Gene | GLUD1 |
CLNDBN | Hyperinsulinism-hyperammonemia syndrome |
Reversed | 1 |
HGVS | NC_000010.10:g.88820685T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017506.27, |