Source: ALL

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: rs568758408
rs568758408
CYP21A2
0.925 0.200 6 32040183 missense variant T/C snv 4.1E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.010 1.000 1 2014 2014
dbSNP: rs568758408
rs568758408
CYP21A2
0.925 0.200 6 32040183 missense variant T/C snv 4.1E-06
CUI: C0268292
Disease: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency 		0.010 1.000 1 2014 2014