rs776896550
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 5 | Birt-Hogg-Dube Syndrome |
Make rs776896550(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 17226224 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs776896550 |
dbSNP (classic) | rs776896550 |
ClinGen | rs776896550 |
ebi | rs776896550 |
HLI | rs776896550 |
Exac | rs776896550 |
Gnomad | rs776896550 |
Varsome | rs776896550 |
LitVar | rs776896550 |
Map | rs776896550 |
PheGenI | rs776896550 |
Biobank | rs776896550 |
1000 genomes | rs776896550 |
hgdp | rs776896550 |
ensembl | rs776896550 |
geneview | rs776896550 |
scholar | rs776896550 |
rs776896550 | |
pharmgkb | rs776896550 |
gwascentral | rs776896550 |
openSNP | rs776896550 |
23andMe | rs776896550 |
SNPshot | rs776896550 |
SNPdbe | rs776896550 |
MSV3d | rs776896550 |
GWAS Ctlg | rs776896550 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs776896550(T;T) |
Alt | rs776896550(T;T) |
Reference | Rs776896550(-;-) |
Significance | Pathogenic |
Disease | Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FLCN |
CLNDBN | Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.17129539dupT |
CLNSRC | |
CLNACC | RCV000230001.2, RCV000358389.1, RCV000492339.1, |