rs764952788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs764952788(A;A) |
Make rs764952788(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 50779853 |
Gene | CYLD |
is a | snp |
is | mentioned by |
dbSNP | rs764952788 |
dbSNP (classic) | rs764952788 |
ClinGen | rs764952788 |
ebi | rs764952788 |
HLI | rs764952788 |
Exac | rs764952788 |
Gnomad | rs764952788 |
Varsome | rs764952788 |
LitVar | rs764952788 |
Map | rs764952788 |
PheGenI | rs764952788 |
Biobank | rs764952788 |
1000 genomes | rs764952788 |
hgdp | rs764952788 |
ensembl | rs764952788 |
geneview | rs764952788 |
scholar | rs764952788 |
rs764952788 | |
pharmgkb | rs764952788 |
gwascentral | rs764952788 |
openSNP | rs764952788 |
23andMe | rs764952788 |
SNPshot | rs764952788 |
SNPdbe | rs764952788 |
MSV3d | rs764952788 |
GWAS Ctlg | rs764952788 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764952788(A;A) rs764952788(T;T) |
Alt | rs764952788(A;A) rs764952788(T;T) |
Reference | Rs764952788(C;C) |
Significance | Pathogenic |
Disease | Cylindromatosis |
Variation | info |
Gene | CYLD |
CLNDBN | Cylindromatosis, familial |
Reversed | 0 |
HGVS | NC_000016.9:g.50813764C>T |
CLNSRC | |
CLNACC | RCV000257934.1, |