rs141033578, CFTR

N. diseases: 2
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 bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 6 1995 2007
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2013 2017