Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
melanoma
|
515 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.730 | 1.000 | 4 | 2008 | 2014 | ||||
Squamous cell carcinoma
|
257 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
Autosomal recessive ocular albinism
|
4 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
Basal Cell Cancer
|
109 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
Basal cell carcinoma
|
109 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
Basal Cell Neoplasm
|
109 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
Carcinoma, Basal Cell
|
91 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
Cutaneous Melanoma
|
248 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
Experimental Organism Basal Cell Carcinoma
|
63 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
Suntan
|
94 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
Albinism
|
27 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
Albinism, Ocular
|
10 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
|
2 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
|
14 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
Familial (FPAH)
|
276 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
Malignant neoplasm of skin
|
38 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
Skin Pigmentation
|
72 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
Squamous cell carcinoma of skin
|
92 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
Vitiligo
|
249 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
Abnormality of metabolism/homeostasis
|
5 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 0 | |||||||
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
|
2 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 0 | |||||||
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
24 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 0 | |||||||
Choroidal Neovascularization
|
3 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 0 | |||||||
Elevated hepatic transaminase
|
9 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 0 | |||||||
Foveal hypoplasia (finding)
|
4 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 0 |