rs281864915
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281864915(-;-) |
Make rs281864915(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 151859963 |
Gene | GLRA1 |
is a | snp |
is | mentioned by |
dbSNP | rs281864915 |
dbSNP (classic) | rs281864915 |
ClinGen | rs281864915 |
ebi | rs281864915 |
HLI | rs281864915 |
Exac | rs281864915 |
Gnomad | rs281864915 |
Varsome | rs281864915 |
LitVar | rs281864915 |
Map | rs281864915 |
PheGenI | rs281864915 |
Biobank | rs281864915 |
1000 genomes | rs281864915 |
hgdp | rs281864915 |
ensembl | rs281864915 |
geneview | rs281864915 |
scholar | rs281864915 |
rs281864915 | |
pharmgkb | rs281864915 |
gwascentral | rs281864915 |
openSNP | rs281864915 |
23andMe | rs281864915 |
SNPshot | rs281864915 |
SNPdbe | rs281864915 |
MSV3d | rs281864915 |
GWAS Ctlg | rs281864915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281864915(-;-) |
Alt | rs281864915(-;-) |
Reference | Rs281864915(C;C) |
Significance | Pathogenic |
Disease | Hyperekplexia hereditary |
Variation | info |
Gene | GLRA1 |
CLNDBN | Hyperekplexia hereditary |
Reversed | 1 |
HGVS | NC_000005.9:g.151239524delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017445.28, RCV000031895.1, |