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: rs1300867348
rs1300867348 		0.925 0.040 7 117664776 missense variant A/G snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
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: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs202179988
rs202179988 		0.925 0.160 7 117611649 missense variant C/T snv 4.8E-05 2.8E-05
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: 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: rs397508142
rs397508142 		1.000 0.040 7 117540242 missense variant A/G snv 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs397508187
rs397508187 		0.925 0.160 7 117548746 missense variant C/A;T snv 8.2E-06
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: rs397508392
rs397508392 		1.000 0.040 7 117594961 missense variant C/G snv
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: rs397508521
rs397508521 		1.000 0.040 7 117611682 missense variant G/C snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2004 2004
dbSNP: rs397508592
rs397508592 		1.000 0.040 7 117530989 missense variant T/C snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs397508619
rs397508619 		1.000 0.040 7 117642588 missense variant C/A;T snv 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs397508696
rs397508696 		1.000 0.040 7 117665523 stop gained G/A;T snv
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: rs73215912
rs73215912 		1.000 0.040 7 117542024 missense variant A/C snv 4.0E-05 2.8E-05
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: rs74503330
rs74503330 		0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs78769542
rs78769542 		0.925 0.160 7 117611650 missense variant G/A;C snv 6.1E-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: rs397508638
rs397508638 		0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.020 1.000 2 2007 2011
dbSNP: rs74571530
rs74571530 		0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.020 1.000 2 2005 2008
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: rs140502196
rs140502196 		1.000 0.040 7 117530957 missense variant C/G;T snv 6.0E-05
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: rs141033578
rs141033578 		0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05
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: 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: 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: 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: rs397508220
rs397508220 		1.000 0.040 7 117504348 missense variant C/A snv 7.0E-06
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