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: rs397508272
rs397508272
CFTR
1.000 0.120 7 117509038 missense variant T/C;G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015