rs587781952
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Birt-Hogg-Dube Syndrome |
Make rs587781952(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 17219138 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs587781952 |
dbSNP (classic) | rs587781952 |
ClinGen | rs587781952 |
ebi | rs587781952 |
HLI | rs587781952 |
Exac | rs587781952 |
Gnomad | rs587781952 |
Varsome | rs587781952 |
LitVar | rs587781952 |
Map | rs587781952 |
PheGenI | rs587781952 |
Biobank | rs587781952 |
1000 genomes | rs587781952 |
hgdp | rs587781952 |
ensembl | rs587781952 |
geneview | rs587781952 |
scholar | rs587781952 |
rs587781952 | |
pharmgkb | rs587781952 |
gwascentral | rs587781952 |
openSNP | rs587781952 |
23andMe | rs587781952 |
SNPshot | rs587781952 |
SNPdbe | rs587781952 |
MSV3d | rs587781952 |
GWAS Ctlg | rs587781952 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs587781952(T;T) |
Alt | rs587781952(T;T) |
Reference | Rs587781952(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FLCN |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.17122452C>A |
CLNSRC | |
CLNACC | RCV000130322.2, |