rs121918410
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121918410(A;G) |
Make rs121918410(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 151829060 |
Gene | GLRA1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918410 |
dbSNP (classic) | rs121918410 |
ClinGen | rs121918410 |
ebi | rs121918410 |
HLI | rs121918410 |
Exac | rs121918410 |
Gnomad | rs121918410 |
Varsome | rs121918410 |
LitVar | rs121918410 |
Map | rs121918410 |
PheGenI | rs121918410 |
Biobank | rs121918410 |
1000 genomes | rs121918410 |
hgdp | rs121918410 |
ensembl | rs121918410 |
geneview | rs121918410 |
scholar | rs121918410 |
rs121918410 | |
pharmgkb | rs121918410 |
gwascentral | rs121918410 |
openSNP | rs121918410 |
23andMe | rs121918410 |
SNPshot | rs121918410 |
SNPdbe | rs121918410 |
MSV3d | rs121918410 |
GWAS Ctlg | rs121918410 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918410(C;C) rs121918410(G;G) |
Alt | rs121918410(C;C) rs121918410(G;G) |
Reference | Rs121918410(A;A) |
Significance | Pathogenic |
Disease | Hyperekplexia hereditary |
Variation | info |
Gene | GLRA1 |
CLNDBN | Hyperekplexia hereditary |
Reversed | 1 |
HGVS | NC_000005.9:g.151208621T>C; NC_000005.9:g.151208621T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017441.25, RCV000031892.2, |