rs281864919
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281864919(A;A) |
Make rs281864919(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 151822764 |
Gene | GLRA1 |
is a | snp |
is | mentioned by |
dbSNP | rs281864919 |
dbSNP (classic) | rs281864919 |
ClinGen | rs281864919 |
ebi | rs281864919 |
HLI | rs281864919 |
Exac | rs281864919 |
Gnomad | rs281864919 |
Varsome | rs281864919 |
LitVar | rs281864919 |
Map | rs281864919 |
PheGenI | rs281864919 |
Biobank | rs281864919 |
1000 genomes | rs281864919 |
hgdp | rs281864919 |
ensembl | rs281864919 |
geneview | rs281864919 |
scholar | rs281864919 |
rs281864919 | |
pharmgkb | rs281864919 |
gwascentral | rs281864919 |
openSNP | rs281864919 |
23andMe | rs281864919 |
SNPshot | rs281864919 |
SNPdbe | rs281864919 |
MSV3d | rs281864919 |
GWAS Ctlg | rs281864919 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281864919(A;A) |
Alt | rs281864919(A;A) |
Reference | Rs281864919(G;G) |
Significance | Pathogenic |
Disease | Hyperekplexia hereditary not provided |
Variation | info |
Gene | GLRA1 |
CLNDBN | Hyperekplexia hereditary not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.151202325C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031896.1, RCV000358468.1, |