SKI Chromosome 1
SKI proto-oncogene
Upload your DNA to see your personal genotypes for variants in SKI.
What This Gene Does
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
SKI transcriptional corepressors
Locus Type
gene with protein product
Location
1p36.33-p36.32
Ensembl
ENSG00000157933
Associated Conditions (10)
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection
Intellectual disability
Autism spectrum disorder
Isolated thoracic aortic aneurysm
SKI-related disorder
Neurodevelopmental abnormality
Neurodevelopmental disorder
Inborn genetic diseases
Disproportionate tall stature
Key Variants
RS1010245755
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
RS112549942
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1171554207
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
RS1206358847
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1325458157
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1339249855
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Intellectual disability
Health Risk
RS138088528
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
RS1389185868
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
RS139179843
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
RS1397350089
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
RS1406949705
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
RS1407167491
Conflicting classifications of pathogenicity
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1010245755 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS112549942 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1171554207 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1206358847 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1325458157 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1339249855 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Intellectual disability |
| RS138088528 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1389185868 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS139179843 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1397350089 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1406949705 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1407167491 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1410289192 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS141464453 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS141862996 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS141961299 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1489798677 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS149642284 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS150033567 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS1553189874 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS1569660908 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Autism spectrum disorder |
| RS190373826 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS199634070 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS199797772 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Intellectual disability, Familial thoracic aortic aneurysm and aortic dissection |
| RS199997665 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS200717031 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS200874294 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS201599402 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS201613746 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS202132957 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS367916348 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS370217718 | Health Risk | Conflicting classifications of pathogenicity | Isolated thoracic aortic aneurysm, Shprintzen-Goldberg syndrome, Isolated thoracic aortic aneurysm |
| RS370558210 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS370921440 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS372475723 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS372950890 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS376322470 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS376736872 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS377092419 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS397514589 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS542659326 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS544709718 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS557289756 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS571976990 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS61735580 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, SKI-related disorder |
| RS745717087 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS746659856 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS746882046 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS747798210 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome |
| RS748681103 | Health Risk | Conflicting classifications of pathogenicity | Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |