Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.730 1.000 34 1990 2015
dbSNP: rs75541969
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 6 1995 2007