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: rs368505753
rs368505753
0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.820 0.973 20 1990 2017