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: 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: rs121909011
rs121909011 		0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
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: 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: rs145449046
rs145449046 		0.925 0.160 7 117592541 stop gained C/G;T snv 1.3E-04; 5.5E-06
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: 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: 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
dbSNP: rs397508225
rs397508225 		0.925 0.160 7 117559609 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 0.700 1.000 6 1995 2007
dbSNP: rs397508718
rs397508718 		0.925 0.160 7 117531070 stop gained G/A;T snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 1.000 6 1995 2007
dbSNP: rs397508759
rs397508759 		0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.800 1.000 6 1995 2007
dbSNP: rs397508783
rs397508783 		0.925 0.160 7 117535363 missense variant T/A snv 2.4E-05 7.0E-06
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: rs11971167
rs11971167 		0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.720 1.000 2 1999 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: 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: 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: 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: 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: 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: rs74551128
rs74551128 		0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.710 1.000 1 1998 1998
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: 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: rs1057516457
rs1057516457 		0.925 0.160 7 117664711 frameshift variant CA/- delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0