rs886040870
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TGTCAAGAGG;TGTCAAGAGG) | 0 | common in clinvar |
Make rs886040870(-;-) |
Make rs886040870(-;CAAGAGGTGT) |
Make rs886040870(CAAGAGGTGT;CAAGAGGTGT) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 50776224 |
Gene | CYLD |
is a | snp |
is | mentioned by |
dbSNP | rs886040870 |
dbSNP (classic) | rs886040870 |
ClinGen | rs886040870 |
ebi | rs886040870 |
HLI | rs886040870 |
Exac | rs886040870 |
Gnomad | rs886040870 |
Varsome | rs886040870 |
LitVar | rs886040870 |
Map | rs886040870 |
PheGenI | rs886040870 |
Biobank | rs886040870 |
1000 genomes | rs886040870 |
hgdp | rs886040870 |
ensembl | rs886040870 |
geneview | rs886040870 |
scholar | rs886040870 |
rs886040870 | |
pharmgkb | rs886040870 |
gwascentral | rs886040870 |
openSNP | rs886040870 |
23andMe | rs886040870 |
SNPshot | rs886040870 |
SNPdbe | rs886040870 |
MSV3d | rs886040870 |
GWAS Ctlg | rs886040870 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886040870(-;-) |
Alt | rs886040870(-;-) |
Reference | Rs886040870(TGTCAAGAGG;TGTCAAGAGG) |
Significance | Pathogenic |
Disease | Spiegler-Brooke syndrome |
Variation | info |
Gene | CYLD |
CLNDBN | Spiegler-Brooke syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.50810135_50810144delCAAGAGGTGT |
CLNSRC | |
CLNACC | RCV000257938.1, |