rs398124529
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
Make rs398124529(-;-) |
Make rs398124529(-;AAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 17214999 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs398124529 |
dbSNP (classic) | rs398124529 |
ClinGen | rs398124529 |
ebi | rs398124529 |
HLI | rs398124529 |
Exac | rs398124529 |
Gnomad | rs398124529 |
Varsome | rs398124529 |
LitVar | rs398124529 |
Map | rs398124529 |
PheGenI | rs398124529 |
Biobank | rs398124529 |
1000 genomes | rs398124529 |
hgdp | rs398124529 |
ensembl | rs398124529 |
geneview | rs398124529 |
scholar | rs398124529 |
rs398124529 | |
pharmgkb | rs398124529 |
gwascentral | rs398124529 |
openSNP | rs398124529 |
23andMe | rs398124529 |
SNPshot | rs398124529 |
SNPdbe | rs398124529 |
MSV3d | rs398124529 |
GWAS Ctlg | rs398124529 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124529(-;-) |
Alt | rs398124529(-;-) |
Reference | Rs398124529(AAG;AAG) |
Significance | Pathogenic |
Disease | not provided Multiple fibrofolliculomas |
Variation | info |
Gene | FLCN LOC101928660 |
CLNDBN | not provided Multiple fibrofolliculomas |
Reversed | 1 |
HGVS | NC_000017.10:g.17118313_17118315delCTT |
CLNSRC | HGMD |
CLNACC | RCV000082629.5, RCV000239713.1, |