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: rs1800111
rs1800111
CFTR
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.720 1.000 20 1990 2017
dbSNP: rs1800111
rs1800111
CFTR
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 6 1995 2007