rs76371115, CFTR

N. diseases: 6
Source: ALL
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
704 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.800 1.000 34 1990 2015
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.020 1.000 2 2000 2008
Acute on chronic pancreatitis
CUI: C0262417
Disease: Acute on chronic pancreatitis
7 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.010 1.000 1 2003 2003
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.010 1.000 1 2000 2000
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
39 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.010 1.000 1 2008 2008
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
16 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.010 1.000 1 2001 2001