rs558699420
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Birt-Hogg-Dube Syndrome |
(G;G) | 0 | common in clinvar |
Make rs558699420(G;T) |
Make rs558699420(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 17222646 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs558699420 |
dbSNP (classic) | rs558699420 |
ClinGen | rs558699420 |
ebi | rs558699420 |
HLI | rs558699420 |
Exac | rs558699420 |
Gnomad | rs558699420 |
Varsome | rs558699420 |
LitVar | rs558699420 |
Map | rs558699420 |
PheGenI | rs558699420 |
Biobank | rs558699420 |
1000 genomes | rs558699420 |
hgdp | rs558699420 |
ensembl | rs558699420 |
geneview | rs558699420 |
scholar | rs558699420 |
rs558699420 | |
pharmgkb | rs558699420 |
gwascentral | rs558699420 |
openSNP | rs558699420 |
23andMe | rs558699420 |
SNPshot | rs558699420 |
SNPdbe | rs558699420 |
MSV3d | rs558699420 |
GWAS Ctlg | rs558699420 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs558699420(A;A) rs558699420(T;T) |
Alt | rs558699420(A;A) rs558699420(T;T) |
Reference | Rs558699420(G;G) |
Significance | Pathogenic |
Disease | Multiple fibrofolliculomas |
Variation | info |
Gene | FLCN |
CLNDBN | Multiple fibrofolliculomas |
Reversed | 0 |
HGVS | NC_000017.10:g.17125960G>A |
CLNSRC | |
CLNACC | RCV000239615.1, |