SNHG14, small nucleolar RNA host gene 14, 104472715
N. diseases: 44; N. variants: 137
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Angelman syndrome 2005: updated consensus for diagnostic criteria. | 16470747 | 2006 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Angelman syndrome 2005: updated consensus for diagnostic criteria. | 16470747 | 2006 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. | 15263005 | 2004 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. | 15263005 | 2004 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. | 15263005 | 2004 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | UBE3A/E6-AP mutations cause Angelman syndrome. | 8988171 | 1997 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | UBE3A/E6-AP mutations cause Angelman syndrome. | 8988171 | 1997 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | UBE3A/E6-AP mutations cause Angelman syndrome. | 8988171 | 1997 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. | 2309781 | 1990 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. | 2309781 | 1990 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. | 2309781 | 1990 |