CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74551128
rs74551128
0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs75541969
rs75541969
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs772223589
rs772223589
0.925 0.120 7 117590391 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs78655421
rs78655421
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019