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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
62 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.720 | 1.000 | 11 | 1990 | 2013 | |||||
Movement Disorders
|
247 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.700 | 1.000 | 9 | 1998 | 2015 | |||||
Chronic active hepatitis
|
34 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.080 | 1.000 | 8 | 1998 | 2019 | |||||
21-hydroxylase deficiency
|
28 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.040 | 0.750 | 4 | 2007 | 2019 | |||||
Deficiency of steroid 21-monooxygenase
|
26 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.040 | 1.000 | 4 | 1998 | 2008 | |||||
Polycystic Ovary Syndrome
|
363 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.030 | 0.667 | 3 | 2000 | 2011 | |||||
Adenoma
|
103 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
Adrenocortical carcinoma
|
46 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
Central Precocious Puberty
|
2 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Congenital adrenal hyperplasia
|
36 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Familial (FPAH)
|
276 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
Frontal fibrosing alopecia
|
14 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
Hyperandrogenism
|
24 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
Hypertensive disease
|
1085 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1 | 2010 | 2010 | ||||||
Late onset congenital adrenal hyperplasia
|
1 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Maternal hypertension
|
22 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1 | 2010 | 2010 | ||||||
Neoplasms
|
1644 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Nevus comedonicus
|
6 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Postmenopausal frontal fibrosing alopecia
|
14 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
Precocious pubarche
|
11 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Precocious Puberty
|
20 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Pregnancy associated hypertension
|
43 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1 | 2010 | 2010 | ||||||
ADENOMA, CORTISOL-PRODUCING
|
1 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.700 | 0 | ||||||||
CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
|
1 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.700 | 0 |