rs28931591
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 |
Make rs28931591(C;T) |
Make rs28931591(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63350560 |
Gene | CHRNA4 |
is a | snp |
is | mentioned by |
dbSNP | rs28931591 |
dbSNP (classic) | rs28931591 |
ClinGen | rs28931591 |
ebi | rs28931591 |
HLI | rs28931591 |
Exac | rs28931591 |
Gnomad | rs28931591 |
Varsome | rs28931591 |
LitVar | rs28931591 |
Map | rs28931591 |
PheGenI | rs28931591 |
Biobank | rs28931591 |
1000 genomes | rs28931591 |
hgdp | rs28931591 |
ensembl | rs28931591 |
geneview | rs28931591 |
scholar | rs28931591 |
rs28931591 | |
pharmgkb | rs28931591 |
gwascentral | rs28931591 |
openSNP | rs28931591 |
23andMe | rs28931591 |
SNPshot | rs28931591 |
SNPdbe | rs28931591 |
MSV3d | rs28931591 |
GWAS Ctlg | rs28931591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28931591(T;T) |
Alt | rs28931591(T;T) |
Reference | Rs28931591(C;C) |
Significance | Pathogenic |
Disease | Epilepsy not provided |
Variation | info |
Gene | CHRNA4 |
CLNDBN | Epilepsy, nocturnal frontal lobe, type 1 not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.61981912G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019052.28, RCV000186931.1, |