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: rs191456345
rs191456345
0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
0.700 1.000 17 1995 2017
dbSNP: rs397508462
rs397508462
1.000 0.120 7 117606701 missense variant A/C;G;T snv 3.6E-05; 4.0E-06
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
0.700 1.000 14 1997 2014
dbSNP: rs193922511
rs193922511
1.000 0.040 7 117603687 missense variant T/G snv 1.6E-05 2.8E-05
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
0.700 1.000 10 1997 2017
dbSNP: rs39312
rs39312
7 117314731 intron variant A/C snv 0.43
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2018 2019
dbSNP: rs1800111
rs1800111
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic
0.010 1.000 1 2007 2007
dbSNP: rs397508638
rs397508638
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome
0.010 1.000 1 2004 2004
dbSNP: rs77409459
rs77409459
0.851 0.160 7 117540243 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0857122
Disease: Hyponatraemic
Hyponatraemic
0.010 1.000 1 1998 1998
dbSNP: rs7805063
rs7805063
7 117401015 intron variant C/T snv 0.54
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs80034486
rs80034486
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome
0.010 1.000 1 2004 2004
dbSNP: rs113857788
rs113857788
0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
0.700 0
dbSNP: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis
0.700 0
dbSNP: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions
0.700 0
dbSNP: rs113993960
rs113993960
0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
0.700 0
dbSNP: rs121909043
rs121909043
0.882 0.160 7 117667029 stop gained C/A;G snv 1.2E-05 7.0E-06
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
0.700 0
dbSNP: rs1800111
rs1800111
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs1800111
rs1800111
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs1805177
rs1805177
0.925 0.160 7 117548629 splice acceptor variant TTTTTT/-;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT delins
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
0.700 0
dbSNP: rs74597325
rs74597325
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions
0.700 0
dbSNP: rs74597325
rs74597325
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis
0.700 0
dbSNP: rs114167782
rs114167782
7 117299233 intron variant C/T snv 3.0E-02
CUI: C0037369
Disease: Smoking
Smoking
Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs114167782
rs114167782
7 117299233 intron variant C/T snv 3.0E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs10249651
rs10249651
1.000 0.040 7 117424571 intron variant T/C snv 0.40
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs74597325
rs74597325
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0034072
Disease: Cor pulmonale
Cor pulmonale
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7808424
rs7808424
1.000 0.040 7 117427768 intron variant T/G snv 0.11
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs975722
rs975722
1.000 0.040 7 117692860 intron variant A/G snv 0.53
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018