GSN Chromosome 9
Gelsolin
Upload your DNA to see your personal genotypes for variants in GSN.
What This Gene Does
The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gelsolin/villins
Locus Type
gene with protein product
Location
9q33.2
Ensembl
ENSG00000148180
Associated Conditions (3)
Inborn genetic diseases
Finnish type amyloidosis
GSN-related disorder
Key Variants
RS1199158051
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1275798438
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138068754
Conflicting classifications of pathogenicity
Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis
Health Risk
RS138153246
Conflicting classifications of pathogenicity
Health Risk
RS141314418
Conflicting classifications of pathogenicity
Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases
Health Risk
RS141510612
Conflicting classifications of pathogenicity
Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis
Health Risk
RS142034230
Conflicting classifications of pathogenicity
Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis
Health Risk
RS142305374
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142828669
Conflicting classifications of pathogenicity
Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis
Health Risk
RS144375242
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145066574
Conflicting classifications of pathogenicity
Finnish type amyloidosis, Finnish type amyloidosis
Health Risk
RS145170518
Conflicting classifications of pathogenicity
Finnish type amyloidosis, Finnish type amyloidosis
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1199158051 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1275798438 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138068754 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS138153246 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141314418 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS141510612 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS142034230 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS142305374 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142828669 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS144375242 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145066574 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS145170518 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS145721476 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS146956976 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS147554026 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS148410442 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS151155909 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS181442771 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS199681748 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, GSN-related disorder, Finnish type amyloidosis |
| RS201952723 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS2063220897 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS368197143 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS370997492 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS371175865 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS372218880 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372713895 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS373791435 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374445066 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS375227932 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS375323203 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS375902120 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS376488491 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376744130 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS528604896 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS570834330 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745312507 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745619898 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS750132751 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS751627510 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS752572521 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, GSN-related disorder |
| RS757046360 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS757131212 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757684181 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |
| RS761131048 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS761824852 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS762432847 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS764432229 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Finnish type amyloidosis |
| RS764841269 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS765499763 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish type amyloidosis, Inborn genetic diseases |
| RS766945413 | Health Risk | Conflicting classifications of pathogenicity | Finnish type amyloidosis, Inborn genetic diseases, Finnish type amyloidosis |