rs398124542
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AGCCCCTGTGTTGCCAGAGAGTACAGAA) | 5 | Birt-Hogg-Dube Syndrome |
Make rs398124542(AGCCCCTGTGTTGCCAGAGAGTACAGAA;AGCCCCTGTGTTGCCAGAGAGTACAGAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 17219126 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs398124542 |
dbSNP (classic) | rs398124542 |
ClinGen | rs398124542 |
ebi | rs398124542 |
HLI | rs398124542 |
Exac | rs398124542 |
Gnomad | rs398124542 |
Varsome | rs398124542 |
LitVar | rs398124542 |
Map | rs398124542 |
PheGenI | rs398124542 |
Biobank | rs398124542 |
1000 genomes | rs398124542 |
hgdp | rs398124542 |
ensembl | rs398124542 |
geneview | rs398124542 |
scholar | rs398124542 |
rs398124542 | |
pharmgkb | rs398124542 |
gwascentral | rs398124542 |
openSNP | rs398124542 |
23andMe | rs398124542 |
SNPshot | rs398124542 |
SNPdbe | rs398124542 |
MSV3d | rs398124542 |
GWAS Ctlg | rs398124542 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs398124542(AGCCCCTGTGTTGCCAGAGAGTACAGAA;AGCCCCTGTGTTGCCAGAGAGTACAGAA) |
Alt | rs398124542(AGCCCCTGTGTTGCCAGAGAGTACAGAA;AGCCCCTGTGTTGCCAGAGAGTACAGAA) |
Reference | Rs398124542(-;-) |
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.17122441_17122468dup28 |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000082645.3, RCV000239656.3, RCV000492117.1, |