rs876657646
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Birt-Hogg-Dube Syndrome |
(T;T) | 0 | common in clinvar |
Make rs876657646(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 17223987 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs876657646 |
dbSNP (classic) | rs876657646 |
ClinGen | rs876657646 |
ebi | rs876657646 |
HLI | rs876657646 |
Exac | rs876657646 |
Gnomad | rs876657646 |
Varsome | rs876657646 |
LitVar | rs876657646 |
Map | rs876657646 |
PheGenI | rs876657646 |
Biobank | rs876657646 |
1000 genomes | rs876657646 |
hgdp | rs876657646 |
ensembl | rs876657646 |
geneview | rs876657646 |
scholar | rs876657646 |
rs876657646 | |
pharmgkb | rs876657646 |
gwascentral | rs876657646 |
openSNP | rs876657646 |
23andMe | rs876657646 |
SNPshot | rs876657646 |
SNPdbe | rs876657646 |
MSV3d | rs876657646 |
GWAS Ctlg | rs876657646 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs876657646(C;C) |
Alt | rs876657646(C;C) |
Reference | Rs876657646(T;T) |
Significance | Probable-Pathogenic |
Disease | Multiple fibrofolliculomas |
Variation | info |
Gene | FLCN |
CLNDBN | Multiple fibrofolliculomas |
Reversed | 1 |
HGVS | NC_000017.10:g.17127301A>G |
CLNSRC | |
CLNACC | RCV000222633.1, |