| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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|
|
AC | 0.700 | CausalMutation | CLINVAR | Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. | 7581383 | 1995 | ||||||
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|
|
AC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. | 15292920 | 2005 | ||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. | 10094190 | 1999 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
A | 0.700 | CausalMutation | CLINVAR | Pure myopathy associated with a novel mitochondrial tRNA gene mutation. | 16476954 | 2006 | ||||||
|
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|
A | 0.700 | CausalMutation | CLINVAR | Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? | 19718780 | 2009 | ||||||
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|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. | 11782991 | 2002 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR |