rs878855214
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | Birt-Hogg-Dube Syndrome |
Make rs878855214(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 17213858 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs878855214 |
dbSNP (classic) | rs878855214 |
ClinGen | rs878855214 |
ebi | rs878855214 |
HLI | rs878855214 |
Exac | rs878855214 |
Gnomad | rs878855214 |
Varsome | rs878855214 |
LitVar | rs878855214 |
Map | rs878855214 |
PheGenI | rs878855214 |
Biobank | rs878855214 |
1000 genomes | rs878855214 |
hgdp | rs878855214 |
ensembl | rs878855214 |
geneview | rs878855214 |
scholar | rs878855214 |
rs878855214 | |
pharmgkb | rs878855214 |
gwascentral | rs878855214 |
openSNP | rs878855214 |
23andMe | rs878855214 |
SNPshot | rs878855214 |
SNPdbe | rs878855214 |
MSV3d | rs878855214 |
GWAS Ctlg | rs878855214 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs878855214(G;G) |
Alt | rs878855214(G;G) |
Reference | Rs878855214(A;A) |
Significance | Probable-Pathogenic |
Disease | Multiple fibrofolliculomas |
Variation | info |
Gene | FLCN LOC101928660 |
CLNDBN | Multiple fibrofolliculomas |
Reversed | 1 |
HGVS | NC_000017.10:g.17117172T>C |
CLNSRC | |
CLNACC | RCV000230210.2, |