rs193922511, 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.
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
4 1.000 0.040 7 117603687 missense variant T/G snv 1.6E-05 2.8E-05 0.700 1.000 10 1997 2017
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 1.000 0.040 7 117603687 missense variant T/G snv 1.6E-05 2.8E-05 0.700 0