rs398122923
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122923(A;A) |
Make rs398122923(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 11824933 |
Gene | GNAL |
is a | snp |
is | mentioned by |
dbSNP | rs398122923 |
dbSNP (classic) | rs398122923 |
ClinGen | rs398122923 |
ebi | rs398122923 |
HLI | rs398122923 |
Exac | rs398122923 |
Gnomad | rs398122923 |
Varsome | rs398122923 |
LitVar | rs398122923 |
Map | rs398122923 |
PheGenI | rs398122923 |
Biobank | rs398122923 |
1000 genomes | rs398122923 |
hgdp | rs398122923 |
ensembl | rs398122923 |
geneview | rs398122923 |
scholar | rs398122923 |
rs398122923 | |
pharmgkb | rs398122923 |
gwascentral | rs398122923 |
openSNP | rs398122923 |
23andMe | rs398122923 |
SNPshot | rs398122923 |
SNPdbe | rs398122923 |
MSV3d | rs398122923 |
GWAS Ctlg | rs398122923 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122923(A;A) |
Alt | rs398122923(A;A) |
Reference | Rs398122923(G;G) |
Significance | Pathogenic |
Disease | Dystonia 25 |
Variation | info |
Gene | GNAL |
CLNDBN | Dystonia 25 |
Reversed | 0 |
HGVS | NC_000018.9:g.11824932G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033101.23, |