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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Thanatophoric dysplasia, type 2
|
17 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.890 | 0.909 | 11 | 1995 | 2018 | |||||
Craniosynostosis
|
90 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.720 | 0.833 | 6 | 1998 | 2011 | |||||
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
18 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1995 | 2013 | |||||
Thanatophoric Dysplasia
|
10 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 1995 | 2013 | |||||
Carcinoma
|
103 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 3 | 1999 | 2001 | |||||
Multiple Myeloma
|
865 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.730 | 1.000 | 3 | 2000 | 2011 | |||||
Acanthosis Nigricans
|
11 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 2007 | 2011 | |||||
Malignant neoplasm of urinary bladder
|
316 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2001 | |||||
Osteochondrodysplasias
|
26 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2007 | |||||
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
9 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
Carcinogenesis
|
355 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
Carcinoma of bladder
|
309 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
Chondrosarcoma
|
8 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
Disorder of skeletal system
|
1 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Hyperinsulinism
|
64 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Hypochondroplasia (disorder)
|
42 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||
Malignant Neoplasms
|
1641 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Mucopolysaccharidosis IV
|
9 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Neoplasms
|
1644 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Plasmacytoma
|
8 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Primary malignant neoplasm
|
1374 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Seborrheic keratosis
|
21 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
Skeletal dysplasia
|
65 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Testicular Germ Cell Tumor
|
93 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
Spermatocytic seminoma
|
2 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 0 |