Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6471
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.720 1.000 9 1990 2013
dbSNP: rs6471
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 9 1998 2015
dbSNP: rs6471
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C3151153
Disease: ADENOMA, CORTISOL-PRODUCING
ADENOMA, CORTISOL-PRODUCING 		0.700 0
dbSNP: rs6471
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C1859998
Disease: CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING 		0.700 0