rs113993958, CFTR

N. diseases: 3
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.
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06 0.800 1.000 35 1990 2015
Congenital bilateral aplasia of vas deferens
210 0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06 0.800 0
Echogenic Bowel
CUI: C2936423
Disease: Echogenic Bowel
1 0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2012 2012