rs753009073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 5 | Birt-Hogg-Dube Syndrome |
(D;D) | 0 | common genotype |
Make rs753009073(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 17213815 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs753009073 |
dbSNP (classic) | rs753009073 |
ClinGen | rs753009073 |
ebi | rs753009073 |
HLI | rs753009073 |
Exac | rs753009073 |
Gnomad | rs753009073 |
Varsome | rs753009073 |
LitVar | rs753009073 |
Map | rs753009073 |
PheGenI | rs753009073 |
Biobank | rs753009073 |
1000 genomes | rs753009073 |
hgdp | rs753009073 |
ensembl | rs753009073 |
geneview | rs753009073 |
scholar | rs753009073 |
rs753009073 | |
pharmgkb | rs753009073 |
gwascentral | rs753009073 |
openSNP | rs753009073 |
23andMe | rs753009073 |
SNPshot | rs753009073 |
SNPdbe | rs753009073 |
MSV3d | rs753009073 |
GWAS Ctlg | rs753009073 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs753009073(T;T) |
Alt | rs753009073(T;T) |
Reference | Rs753009073(-;-) |
Significance | Pathogenic |
Disease | Multiple fibrofolliculomas |
Variation | info |
Gene | FLCN LOC101928660 |
CLNDBN | Multiple fibrofolliculomas |
Reversed | 0 |
HGVS | NC_000017.10:g.17117129_17117130insT |
CLNSRC | |
CLNACC | RCV000239620.1, |