rs587776993
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587776993(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 69004378 |
Gene | EOGT |
is a | snp |
is | mentioned by |
dbSNP | rs587776993 |
dbSNP (classic) | rs587776993 |
ClinGen | rs587776993 |
ebi | rs587776993 |
HLI | rs587776993 |
Exac | rs587776993 |
Gnomad | rs587776993 |
Varsome | rs587776993 |
LitVar | rs587776993 |
Map | rs587776993 |
PheGenI | rs587776993 |
Biobank | rs587776993 |
1000 genomes | rs587776993 |
hgdp | rs587776993 |
ensembl | rs587776993 |
geneview | rs587776993 |
scholar | rs587776993 |
rs587776993 | |
pharmgkb | rs587776993 |
gwascentral | rs587776993 |
openSNP | rs587776993 |
23andMe | rs587776993 |
SNPshot | rs587776993 |
SNPdbe | rs587776993 |
MSV3d | rs587776993 |
GWAS Ctlg | rs587776993 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776993(C;C) |
Alt | Rs587776993(C;C) |
Reference | Rs587776993(G;G) |
Significance | Pathogenic |
Disease | Adams-Oliver syndrome 4 |
Variation | info |
Gene | EOGT |
CLNDBN | Adams-Oliver syndrome 4 |
Reversed | 1 |
HGVS | NC_000003.11:g.69053529C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000049241.2, |