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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Capillary malformation (disorder)
|
2 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Congenital hemihypertrophy
|
2 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Cryptorchidism
|
47 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Hemangioma
|
15 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Hemimegalencephaly
|
4 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Large for gestational age
|
10 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Large head (disorder)
|
116 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Macrocephaly at birth
|
6 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Megalencephaly cutis marmorata telangiectatica congenita
|
9 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
ovarian neoplasm
|
436 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Plagiocephaly
|
11 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Polymicrogyria
|
19 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Adenocarcinoma of lung (disorder)
|
211 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Brain Neoplasms
|
118 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Gastric Adenocarcinoma
|
188 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Glioblastoma
|
115 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Liver carcinoma
|
142 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Malignant Uterine Corpus Neoplasm
|
152 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Mammary Neoplasms
|
314 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of lung
|
135 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of the head and neck
|
179 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Transitional cell carcinoma of bladder
|
141 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |