rs786202475
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Birt-Hogg-Dube Syndrome |
Make rs786202475(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 17215064 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs786202475 |
dbSNP (classic) | rs786202475 |
ClinGen | rs786202475 |
ebi | rs786202475 |
HLI | rs786202475 |
Exac | rs786202475 |
Gnomad | rs786202475 |
Varsome | rs786202475 |
LitVar | rs786202475 |
Map | rs786202475 |
PheGenI | rs786202475 |
Biobank | rs786202475 |
1000 genomes | rs786202475 |
hgdp | rs786202475 |
ensembl | rs786202475 |
geneview | rs786202475 |
scholar | rs786202475 |
rs786202475 | |
pharmgkb | rs786202475 |
gwascentral | rs786202475 |
openSNP | rs786202475 |
23andMe | rs786202475 |
SNPshot | rs786202475 |
SNPdbe | rs786202475 |
MSV3d | rs786202475 |
GWAS Ctlg | rs786202475 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs786202475(T;T) |
Alt | rs786202475(T;T) |
Reference | Rs786202475(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FLCN LOC101928660 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.17118378C>A |
CLNSRC | |
CLNACC | RCV000165301.1, |