rs281864922
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281864922(A;A) |
Make rs281864922(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 157136891 |
Gene | GLRB |
is a | snp |
is | mentioned by |
dbSNP | rs281864922 |
dbSNP (classic) | rs281864922 |
ClinGen | rs281864922 |
ebi | rs281864922 |
HLI | rs281864922 |
Exac | rs281864922 |
Gnomad | rs281864922 |
Varsome | rs281864922 |
LitVar | rs281864922 |
Map | rs281864922 |
PheGenI | rs281864922 |
Biobank | rs281864922 |
1000 genomes | rs281864922 |
hgdp | rs281864922 |
ensembl | rs281864922 |
geneview | rs281864922 |
scholar | rs281864922 |
rs281864922 | |
pharmgkb | rs281864922 |
gwascentral | rs281864922 |
openSNP | rs281864922 |
23andMe | rs281864922 |
SNPshot | rs281864922 |
SNPdbe | rs281864922 |
MSV3d | rs281864922 |
GWAS Ctlg | rs281864922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281864922(A;A) |
Alt | rs281864922(A;A) |
Reference | Rs281864922(G;G) |
Significance | Pathogenic |
Disease | Hyperekplexia 2 |
Variation | info |
Gene | GLRB |
CLNDBN | Hyperekplexia 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.158058043G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017437.29, |