| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
T | 0.900 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.820 | CausalMutation | CLINVAR | ||||||||||
|
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A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression). | 19032956 | 2009 |
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|
|
T | 0.800 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
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|
|
T | 0.800 | CausalMutation | CLINVAR | Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. | 11818965 | 2002 |
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|
|
T | 0.800 | CausalMutation | CLINVAR | Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. | 19836313 | 2009 |
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|
|
T | 0.800 | CausalMutation | CLINVAR | Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. | 19394335 | 2009 |
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|
|
C | 0.800 | CausalMutation | CLINVAR | MUTYH-associated colorectal cancer and adenomatous polyposis. | 23605219 | 2014 |
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|
|
C | 0.800 | CausalMutation | CLINVAR | Leiden Open Variation Database of the MUTYH gene. | 20725929 | 2010 |
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|
|
C | 0.800 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
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|
|
C | 0.800 | CausalMutation | CLINVAR | Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | 22703879 | 2012 |
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|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.800 | CausalMutation | CLINVAR |