rs281864923
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281864923(-;-) |
Make rs281864923(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 20601448 |
Gene | SLC6A5 |
is a | snp |
is | mentioned by |
dbSNP | rs281864923 |
dbSNP (classic) | rs281864923 |
ClinGen | rs281864923 |
ebi | rs281864923 |
HLI | rs281864923 |
Exac | rs281864923 |
Gnomad | rs281864923 |
Varsome | rs281864923 |
LitVar | rs281864923 |
Map | rs281864923 |
PheGenI | rs281864923 |
Biobank | rs281864923 |
1000 genomes | rs281864923 |
hgdp | rs281864923 |
ensembl | rs281864923 |
geneview | rs281864923 |
scholar | rs281864923 |
rs281864923 | |
pharmgkb | rs281864923 |
gwascentral | rs281864923 |
openSNP | rs281864923 |
23andMe | rs281864923 |
SNPshot | rs281864923 |
SNPdbe | rs281864923 |
MSV3d | rs281864923 |
GWAS Ctlg | rs281864923 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281864923(-;-) |
Alt | rs281864923(-;-) |
Reference | Rs281864923(C;C) |
Significance | Pathogenic |
Disease | Hyperekplexia 3 |
Variation | info |
Gene | SLC6A5 |
CLNDBN | Hyperekplexia 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.20622994delC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031925.2, |