rs41419545
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs41419545(C;T) |
| Make rs41419545(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 17215284 |
| Gene | FLCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41419545 |
| dbSNP (classic) | rs41419545 |
| ClinGen | rs41419545 |
| ebi | rs41419545 |
| HLI | rs41419545 |
| Exac | rs41419545 |
| Gnomad | rs41419545 |
| Varsome | rs41419545 |
| LitVar | rs41419545 |
| Map | rs41419545 |
| PheGenI | rs41419545 |
| Biobank | rs41419545 |
| 1000 genomes | rs41419545 |
| hgdp | rs41419545 |
| ensembl | rs41419545 |
| geneview | rs41419545 |
| scholar | rs41419545 |
| rs41419545 | |
| pharmgkb | rs41419545 |
| gwascentral | rs41419545 |
| openSNP | rs41419545 |
| 23andMe | rs41419545 |
| SNPshot | rs41419545 |
| SNPdbe | rs41419545 |
| MSV3d | rs41419545 |
| GWAS Ctlg | rs41419545 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41419545(A;A) rs41419545(T;T) |
| Alt | rs41419545(A;A) rs41419545(T;T) |
| Reference | Rs41419545(C;C) |
| Significance | Other |
| Disease | Carcinoma of colon not provided not specified Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas Spontaneous pneumothorax |
| Variation | info |
| Gene | FLCN LOC101928660 |
| CLNDBN | Carcinoma of colon not provided not specified Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas Spontaneous pneumothorax |
| Reversed | 0 |
| HGVS | NC_000017.10:g.17118598C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003537.5, RCV000034789.1, RCV000121112.4, RCV000163302.3, RCV000232087.4, RCV000336471.1, |
[PMID 19116017
] Folliculin mutations are not associated with severe COPD.
