rs587782069
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Birt-Hogg-Dube Syndrome |
Make rs587782069(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 17224041 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs587782069 |
dbSNP (classic) | rs587782069 |
ClinGen | rs587782069 |
ebi | rs587782069 |
HLI | rs587782069 |
Exac | rs587782069 |
Gnomad | rs587782069 |
Varsome | rs587782069 |
LitVar | rs587782069 |
Map | rs587782069 |
PheGenI | rs587782069 |
Biobank | rs587782069 |
1000 genomes | rs587782069 |
hgdp | rs587782069 |
ensembl | rs587782069 |
geneview | rs587782069 |
scholar | rs587782069 |
rs587782069 | |
pharmgkb | rs587782069 |
gwascentral | rs587782069 |
openSNP | rs587782069 |
23andMe | rs587782069 |
SNPshot | rs587782069 |
SNPdbe | rs587782069 |
MSV3d | rs587782069 |
GWAS Ctlg | rs587782069 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs587782069(T;T) |
Alt | rs587782069(T;T) |
Reference | Rs587782069(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided |
Variation | info |
Gene | FLCN |
CLNDBN | Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.17127355G>A |
CLNSRC | |
CLNACC | RCV000130556.4, RCV000239654.1, RCV000255173.1, |