rs121908389
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908389(A;G) |
Make rs121908389(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 50791689 |
Gene | CYLD, LOC105371251 |
is a | snp |
is | mentioned by |
dbSNP | rs121908389 |
dbSNP (classic) | rs121908389 |
ClinGen | rs121908389 |
ebi | rs121908389 |
HLI | rs121908389 |
Exac | rs121908389 |
Gnomad | rs121908389 |
Varsome | rs121908389 |
LitVar | rs121908389 |
Map | rs121908389 |
PheGenI | rs121908389 |
Biobank | rs121908389 |
1000 genomes | rs121908389 |
hgdp | rs121908389 |
ensembl | rs121908389 |
geneview | rs121908389 |
scholar | rs121908389 |
rs121908389 | |
pharmgkb | rs121908389 |
gwascentral | rs121908389 |
openSNP | rs121908389 |
23andMe | rs121908389 |
SNPshot | rs121908389 |
SNPdbe | rs121908389 |
MSV3d | rs121908389 |
GWAS Ctlg | rs121908389 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908389(G;G) |
Alt | rs121908389(G;G) |
Reference | Rs121908389(A;A) |
Significance | Pathogenic |
Disease | Familial multiple trichoepitheliomata Spiegler-Brooke syndrome |
Variation | info |
Gene | CYLD |
CLNDBN | Familial multiple trichoepitheliomata Spiegler-Brooke syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.50825600A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005571.2, RCV000005572.2, |