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: rs78194216
rs78194216
CFTR
0.925 0.160 7 117611637 missense variant C/A;T snv 3.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 1.000 34 1990 2015