rs587777485
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777485(A;A) |
Make rs587777485(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 62457653 |
Gene | DOCK7 |
is a | snp |
is | mentioned by |
dbSNP | rs587777485 |
dbSNP (classic) | rs587777485 |
ClinGen | rs587777485 |
ebi | rs587777485 |
HLI | rs587777485 |
Exac | rs587777485 |
Gnomad | rs587777485 |
Varsome | rs587777485 |
LitVar | rs587777485 |
Map | rs587777485 |
PheGenI | rs587777485 |
Biobank | rs587777485 |
1000 genomes | rs587777485 |
hgdp | rs587777485 |
ensembl | rs587777485 |
geneview | rs587777485 |
scholar | rs587777485 |
rs587777485 | |
pharmgkb | rs587777485 |
gwascentral | rs587777485 |
openSNP | rs587777485 |
23andMe | rs587777485 |
SNPshot | rs587777485 |
SNPdbe | rs587777485 |
MSV3d | rs587777485 |
GWAS Ctlg | rs587777485 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777485(A;A) Rs587777485(C;C) |
Alt | rs587777485(A;A) Rs587777485(C;C) |
Reference | Rs587777485(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | DOCK7 |
CLNDBN | Epileptic encephalopathy, early infantile, 23 |
Reversed | 1 |
HGVS | NC_000001.10:g.62923324C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128438.3, |