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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Achondroplasia
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.900 | 0.981 | 53 | 1994 | 2020 | ||||||
NEVUS, EPIDERMAL (disorder)
|
17 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.800 | 0 | |||||||||
Hypochondroplasia (disorder)
|
42 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.780 | 1.000 | 8 | 1995 | 2020 | ||||||
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
18 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 1996 | 2002 | ||||||
Craniosynostosis
|
90 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 1.000 | 5 | 1996 | 2015 | ||||||
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
9 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
CATSHL syndrome
|
10 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Cervix carcinoma
|
283 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Colorectal Carcinoma
|
1962 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
8 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Lacrimoauriculodentodigital syndrome
|
33 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Malignant neoplasm of testis
|
31 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Malignant neoplasm of urinary bladder
|
316 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Muenke Syndrome
|
11 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Thanatophoric dysplasia, type 2
|
17 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Dwarfism
|
77 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.060 | 1.000 | 6 | 1999 | 2016 | ||||||
Thanatophoric Dysplasia
|
10 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 1996 | 2002 | ||||||
Familial (FPAH)
|
276 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||||
Melanocytic nevus
|
33 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Micromelia
|
1 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Russell-Silver syndrome
|
12 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |