rs398124530
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Birt-Hogg-Dube Syndrome |
(G;G) | 0 | common in clinvar |
Make rs398124530(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 17214990 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs398124530 |
dbSNP (classic) | rs398124530 |
ClinGen | rs398124530 |
ebi | rs398124530 |
HLI | rs398124530 |
Exac | rs398124530 |
Gnomad | rs398124530 |
Varsome | rs398124530 |
LitVar | rs398124530 |
Map | rs398124530 |
PheGenI | rs398124530 |
Biobank | rs398124530 |
1000 genomes | rs398124530 |
hgdp | rs398124530 |
ensembl | rs398124530 |
geneview | rs398124530 |
scholar | rs398124530 |
rs398124530 | |
pharmgkb | rs398124530 |
gwascentral | rs398124530 |
openSNP | rs398124530 |
23andMe | rs398124530 |
SNPshot | rs398124530 |
SNPdbe | rs398124530 |
MSV3d | rs398124530 |
GWAS Ctlg | rs398124530 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs398124530(A;A) |
Alt | rs398124530(A;A) |
Reference | Rs398124530(G;G) |
Significance | Pathogenic |
Disease | not provided Multiple fibrofolliculomas |
Variation | info |
Gene | FLCN LOC101928660 |
CLNDBN | not provided Multiple fibrofolliculomas |
Reversed | 1 |
HGVS | NC_000017.10:g.17118304C>T |
CLNSRC | HGMD |
CLNACC | RCV000082630.4, RCV000239664.1, |