CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital bilateral aplasia of vas deferens ×
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: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.080 1.000 8 1998 2018
dbSNP: rs73715573
rs73715573 		0.925 0.160 7 117548630 intron variant T/G snv 8.6E-03; 5.9E-05 9.0E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 1.000 10 1992 2007
dbSNP: rs113993960
rs113993960 		0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs1800100
rs1800100 		0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 1.000 6 1995 2007
dbSNP: rs34911792
rs34911792 		0.925 0.160 7 117627758 missense variant T/G snv 5.0E-03 5.7E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs115545701
rs115545701 		0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.710 1.000 1 1999 1999
dbSNP: rs1800111
rs1800111 		0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 1.000 6 1995 2007
dbSNP: rs75789129
rs75789129 		0.925 0.160 7 117587820 missense variant A/G snv 3.5E-03 1.2E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.710 1.000 1 2013 2013
dbSNP: rs201716473
rs201716473 		0.925 0.160 7 117602800 intron variant A/G snv 4.0E-06; 1.6E-03 1.1E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs138338446
rs138338446 		1.000 0.040 7 117535269 missense variant G/A snv 2.3E-04 4.5E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1800103
rs1800103 		0.925 0.160 7 117592588 missense variant A/G snv 7.7E-04 4.4E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 1.000 6 1995 2007
dbSNP: rs140455771
rs140455771 		0.925 0.160 7 117592416 missense variant C/T snv 2.9E-04 4.0E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908759
rs121908759 		0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.800 1.000 6 1995 2007
dbSNP: rs147422190
rs147422190 		0.925 0.160 7 117548758 missense variant G/T snv 2.6E-04 3.3E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.800 0
dbSNP: rs75541969
rs75541969 		0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 1.000 6 1995 2007
dbSNP: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs75096551
rs75096551 		0.851 0.160 7 117606754 splice donor variant G/A;C;T snv 1.0E-04 2.9E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs200321110
rs200321110 		0.925 0.160 7 117611646 missense variant G/A snv 2.6E-04 2.4E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.800 0
dbSNP: rs80034486
rs80034486 		0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.720 1.000 2 2007 2011
dbSNP: rs139468767
rs139468767 		0.925 0.160 7 117592020 missense variant T/C snv 2.2E-05 1.6E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908769
rs121908769 		0.925 0.160 7 117509128 frameshift variant TT/- delins 1.5E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs377729736
rs377729736 		0.925 0.160 7 117531117 splice region variant A/G snv 2.5E-04 1.5E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121909021
rs121909021 		0.925 0.160 7 117540276 missense variant C/T snv 1.1E-04 1.5E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908752
rs121908752 		0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.800 1.000 6 1995 2007
dbSNP: rs191456345
rs191456345 		0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.800 1.000 6 1995 2009