rs864622651
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 5 | Birt-Hogg-Dube Syndrome |
(C;C) | 0 | common in clinvar |
Make rs864622651(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 17216428 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs864622651 |
dbSNP (classic) | rs864622651 |
ClinGen | rs864622651 |
ebi | rs864622651 |
HLI | rs864622651 |
Exac | rs864622651 |
Gnomad | rs864622651 |
Varsome | rs864622651 |
LitVar | rs864622651 |
Map | rs864622651 |
PheGenI | rs864622651 |
Biobank | rs864622651 |
1000 genomes | rs864622651 |
hgdp | rs864622651 |
ensembl | rs864622651 |
geneview | rs864622651 |
scholar | rs864622651 |
rs864622651 | |
pharmgkb | rs864622651 |
gwascentral | rs864622651 |
openSNP | rs864622651 |
23andMe | rs864622651 |
SNPshot | rs864622651 |
SNPdbe | rs864622651 |
MSV3d | rs864622651 |
GWAS Ctlg | rs864622651 |
Max Magnitude | 5 |
aka c.1252delC (p.Leu418Trpfs)
23andMe name: i712972
ClinVar | |
---|---|
Risk | rs864622651(-;-) |
Alt | rs864622651(-;-) |
Reference | Rs864622651(C;C) |
Significance | Pathogenic |
Disease | Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FLCN LOC101928660 |
CLNDBN | Multiple fibrofolliculomas not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.17119742delG |
CLNSRC | |
CLNACC | RCV000204355.2, RCV000255990.1, RCV000492723.1, |