rs75789129, 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 117587820 missense variant A/G snv 3.5E-03 1.2E-03 0.710 1.000 1 2013 2013
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
81 0.925 0.160 7 117587820 missense variant A/G snv 3.5E-03 1.2E-03 0.020 1.000 2 2018 2018