rs398124533
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | Birt-Hogg-Dube Syndrome |
Make rs398124533(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 17226324 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs398124533 |
dbSNP (classic) | rs398124533 |
ClinGen | rs398124533 |
ebi | rs398124533 |
HLI | rs398124533 |
Exac | rs398124533 |
Gnomad | rs398124533 |
Varsome | rs398124533 |
LitVar | rs398124533 |
Map | rs398124533 |
PheGenI | rs398124533 |
Biobank | rs398124533 |
1000 genomes | rs398124533 |
hgdp | rs398124533 |
ensembl | rs398124533 |
geneview | rs398124533 |
scholar | rs398124533 |
rs398124533 | |
pharmgkb | rs398124533 |
gwascentral | rs398124533 |
openSNP | rs398124533 |
23andMe | rs398124533 |
SNPshot | rs398124533 |
SNPdbe | rs398124533 |
MSV3d | rs398124533 |
GWAS Ctlg | rs398124533 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs398124533(G;G) |
Alt | rs398124533(G;G) |
Reference | Rs398124533(A;A) |
Significance | Pathogenic |
Disease | not provided Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FLCN |
CLNDBN | not provided Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.17129638T>C |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000082633.6, RCV000239670.2, RCV000492149.1, |