rs74315291
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315291(C;C) |
Make rs74315291(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 154571682 |
Gene | CHRNB2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315291 |
dbSNP (classic) | rs74315291 |
ClinGen | rs74315291 |
ebi | rs74315291 |
HLI | rs74315291 |
Exac | rs74315291 |
Gnomad | rs74315291 |
Varsome | rs74315291 |
LitVar | rs74315291 |
Map | rs74315291 |
PheGenI | rs74315291 |
Biobank | rs74315291 |
1000 genomes | rs74315291 |
hgdp | rs74315291 |
ensembl | rs74315291 |
geneview | rs74315291 |
scholar | rs74315291 |
rs74315291 | |
pharmgkb | rs74315291 |
gwascentral | rs74315291 |
openSNP | rs74315291 |
23andMe | rs74315291 |
SNPshot | rs74315291 |
SNPdbe | rs74315291 |
MSV3d | rs74315291 |
GWAS Ctlg | rs74315291 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315291(A;A) rs74315291(C;C) rs74315291(T;T) |
Alt | rs74315291(A;A) rs74315291(C;C) rs74315291(T;T) |
Reference | Rs74315291(G;G) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | CHRNB2 |
CLNDBN | Epilepsy, nocturnal frontal lobe, type 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.154544158G>A; NC_000001.10:g.154544158G>C; NC_000001.10:g.154544158G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019048.28, RCV000019047.28, RCV000033930.2, |