| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. | 8640224 | 1996 | |||||||
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0.800 | GeneticVariation | UNIPROT | Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. | 8640224 | 1996 | |||||||
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A | 0.700 | GeneticVariation | CLINVAR | Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. | 9585600 | 1998 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. | 12761241 | 2003 | ||||||
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0.010 | GeneticVariation | BEFREE | The main goal of the present study was to elucidate the functional implications of six homozygous mutations (G193R, A267S, G319R, A508T, del526N, and Y998X) in the bumetanide-sensitive Na-K-2Cl cotransporter (hNKCC2) identified in patients diagnosed with BS type I. | 12761241 | 2003 | |||||||
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0.700 | GeneticVariation | GWASDB | A genomewide association study of skin pigmentation in a South Asian population. | 17999355 | 2007 | |||||||
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0.700 | GeneticVariation | GWASDB | A genomewide association study of skin pigmentation in a South Asian population. | 17999355 | 2007 | |||||||
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0.700 | GeneticVariation | GWASDB | A genomewide association study of skin pigmentation in a South Asian population. | 17999355 | 2007 | |||||||
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0.700 | GeneticVariation | GWASDB | A genomewide association study of skin pigmentation in a South Asian population. | 17999355 | 2007 | |||||||
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0.700 | GeneticVariation | GWASDB | A genomewide association study of skin pigmentation in a South Asian population. | 17999355 | 2007 | |||||||
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0.700 | GeneticVariation | GWASDB | A genomewide association study of skin pigmentation in a South Asian population. | 17999355 | 2007 |