Source: BEFREE

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: rs35516286
rs35516286
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.840 1.000 4 2001 2017
dbSNP: rs35516286
rs35516286
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
0.010 1.000 1 1992 1992
dbSNP: rs35516286
rs35516286
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency
0.010 1.000 1 1992 1992