rs587776995
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587776995(C;T) |
Make rs587776995(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 68987467 |
Gene | EOGT |
is a | snp |
is | mentioned by |
dbSNP | rs587776995 |
dbSNP (classic) | rs587776995 |
ClinGen | rs587776995 |
ebi | rs587776995 |
HLI | rs587776995 |
Exac | rs587776995 |
Gnomad | rs587776995 |
Varsome | rs587776995 |
LitVar | rs587776995 |
Map | rs587776995 |
PheGenI | rs587776995 |
Biobank | rs587776995 |
1000 genomes | rs587776995 |
hgdp | rs587776995 |
ensembl | rs587776995 |
geneview | rs587776995 |
scholar | rs587776995 |
rs587776995 | |
pharmgkb | rs587776995 |
gwascentral | rs587776995 |
openSNP | rs587776995 |
23andMe | rs587776995 |
SNPshot | rs587776995 |
SNPdbe | rs587776995 |
MSV3d | rs587776995 |
GWAS Ctlg | rs587776995 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776995(T;T) |
Alt | rs587776995(T;T) |
Reference | Rs587776995(C;C) |
Significance | Pathogenic |
Disease | Adams-Oliver syndrome 4 |
Variation | info |
Gene | EOGT |
CLNDBN | Adams-Oliver syndrome 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.69036618C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000049243.4, |