rs121909730
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909730(C;T) |
Make rs121909730(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87053380 |
Gene | GLUD1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909730 |
dbSNP (classic) | rs121909730 |
ClinGen | rs121909730 |
ebi | rs121909730 |
HLI | rs121909730 |
Exac | rs121909730 |
Gnomad | rs121909730 |
Varsome | rs121909730 |
LitVar | rs121909730 |
Map | rs121909730 |
PheGenI | rs121909730 |
Biobank | rs121909730 |
1000 genomes | rs121909730 |
hgdp | rs121909730 |
ensembl | rs121909730 |
geneview | rs121909730 |
scholar | rs121909730 |
rs121909730 | |
pharmgkb | rs121909730 |
gwascentral | rs121909730 |
openSNP | rs121909730 |
23andMe | rs121909730 |
SNPshot | rs121909730 |
SNPdbe | rs121909730 |
MSV3d | rs121909730 |
GWAS Ctlg | rs121909730 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909730(T;T) |
Alt | rs121909730(T;T) |
Reference | Rs121909730(C;C) |
Significance | Pathogenic |
Disease | Hyperinsulinism-hyperammonemia syndrome |
Variation | info |
Gene | GLUD1 |
CLNDBN | Hyperinsulinism-hyperammonemia syndrome |
Reversed | 1 |
HGVS | NC_000010.10:g.88813137G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017501.22, |