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: rs201124247
rs201124247
CFTR
0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2016