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: rs397508276
rs397508276
CFTR
0.925 0.160 7 117590378 missense variant T/C;G snv 9.6E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 1.000 34 1990 2015