rs6471, CYP21A2

N. diseases: 24
Source: ALL
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
CUI: C2936858
Disease: 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
CUI: C0026650
Disease: 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
ADENOMA, CORTISOL-PRODUCING
CUI: C3151153
Disease: 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
CUI: C1859998
Disease: 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
Chronic active hepatitis
CUI: C0520463
Disease: 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
CUI: C0852654
Disease: 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
CUI: C0268287
Disease: 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
CUI: C0032460
Disease: 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
CUI: C0001430
Disease: 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
CUI: C0206686
Disease: 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
CUI: C0342543
Disease: 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
CUI: C0001627
Disease: 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)
CUI: C1611743
Disease: 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
CUI: C4255374
Disease: 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
CUI: C0206081
Disease: 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
CUI: C0020538
Disease: 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
CUI: C0342467
Disease: 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
CUI: C0565599
Disease: 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
CUI: C0027651
Disease: 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
CUI: C0265987
Disease: 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
CUI: C1274700
Disease: 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
CUI: C0342541
Disease: 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
CUI: C0034013
Disease: 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
CUI: C0852036
Disease: 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