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: rs121909011
rs121909011
CFTR
0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.850 1.000 34 1990 2015
dbSNP: rs121909011
rs121909011
CFTR
0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2007