rs758175953
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5 | Birt-Hogg-Dube Syndrome |
Make rs758175953(A;A) |
Make rs758175953(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 17222500 |
Gene | FLCN |
is a | snp |
is | mentioned by |
dbSNP | rs758175953 |
dbSNP (classic) | rs758175953 |
ClinGen | rs758175953 |
ebi | rs758175953 |
HLI | rs758175953 |
Exac | rs758175953 |
Gnomad | rs758175953 |
Varsome | rs758175953 |
LitVar | rs758175953 |
Map | rs758175953 |
PheGenI | rs758175953 |
Biobank | rs758175953 |
1000 genomes | rs758175953 |
hgdp | rs758175953 |
ensembl | rs758175953 |
geneview | rs758175953 |
scholar | rs758175953 |
rs758175953 | |
pharmgkb | rs758175953 |
gwascentral | rs758175953 |
openSNP | rs758175953 |
23andMe | rs758175953 |
SNPshot | rs758175953 |
SNPdbe | rs758175953 |
MSV3d | rs758175953 |
GWAS Ctlg | rs758175953 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs758175953(A;A) |
Alt | rs758175953(A;A) |
Reference | Rs758175953(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided |
Variation | info |
Gene | FLCN |
CLNDBN | Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.17125814C>A; NC_000017.10:g.17125814C>G |
CLNSRC | |
CLNACC | RCV000218992.2, RCV000239675.1, RCV000255322.1, RCV000492125.1, |