rs730880275
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880275(-;-) |
Make rs730880275(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 148383882 |
Gene | CNTNAP2, LOC105375554 |
is a | snp |
is | mentioned by |
dbSNP | rs730880275 |
dbSNP (classic) | rs730880275 |
ClinGen | rs730880275 |
ebi | rs730880275 |
HLI | rs730880275 |
Exac | rs730880275 |
Gnomad | rs730880275 |
Varsome | rs730880275 |
LitVar | rs730880275 |
Map | rs730880275 |
PheGenI | rs730880275 |
Biobank | rs730880275 |
1000 genomes | rs730880275 |
hgdp | rs730880275 |
ensembl | rs730880275 |
geneview | rs730880275 |
scholar | rs730880275 |
rs730880275 | |
pharmgkb | rs730880275 |
gwascentral | rs730880275 |
openSNP | rs730880275 |
23andMe | rs730880275 |
SNPshot | rs730880275 |
SNPdbe | rs730880275 |
MSV3d | rs730880275 |
GWAS Ctlg | rs730880275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880275(-;-) |
Alt | rs730880275(-;-) |
Reference | Rs730880275(G;G) |
Significance | Pathogenic |
Disease | Cortical dysplasia-focal epilepsy syndrome not provided |
Variation | info |
Gene | CNTNAP2 |
CLNDBN | Cortical dysplasia-focal epilepsy syndrome not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.148080974delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005825.3, RCV000255180.1, |