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: rs397508282
rs397508282
CFTR
1.000 0.120 7 117590387 missense variant G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.710 1.000 34 1990 2017