rs191456345, 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.
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.800 1.000 6 1995 2009
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
4 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.700 1.000 17 1995 2017
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.010 1.000 1 2009 2009