rs397508139, CFTR

N. diseases: 2
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
162 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.810 1.000 1 1990 2015
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
66 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2000 2000