rs121908390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908390(C;T) |
Make rs121908390(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 50796443 |
Gene | CYLD, LOC105371251 |
is a | snp |
is | mentioned by |
dbSNP | rs121908390 |
dbSNP (classic) | rs121908390 |
ClinGen | rs121908390 |
ebi | rs121908390 |
HLI | rs121908390 |
Exac | rs121908390 |
Gnomad | rs121908390 |
Varsome | rs121908390 |
LitVar | rs121908390 |
Map | rs121908390 |
PheGenI | rs121908390 |
Biobank | rs121908390 |
1000 genomes | rs121908390 |
hgdp | rs121908390 |
ensembl | rs121908390 |
geneview | rs121908390 |
scholar | rs121908390 |
rs121908390 | |
pharmgkb | rs121908390 |
gwascentral | rs121908390 |
openSNP | rs121908390 |
23andMe | rs121908390 |
SNPshot | rs121908390 |
SNPdbe | rs121908390 |
MSV3d | rs121908390 |
GWAS Ctlg | rs121908390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908390(G;G) rs121908390(T;T) |
Alt | rs121908390(G;G) rs121908390(T;T) |
Reference | Rs121908390(C;C) |
Significance | Pathogenic |
Disease | Cylindromatosis Familial multiple trichoepitheliomata Spiegler-Brooke syndrome |
Variation | info |
Gene | CYLD |
CLNDBN | Cylindromatosis, familial Familial multiple trichoepitheliomata Spiegler-Brooke syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.50830354C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005573.2, RCV000005574.2, RCV000005575.2, |