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: rs746418935
rs746418935 		0.925 0.160 7 117592340 frameshift variant -/A delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908789
rs121908789 		0.925 0.160 7 117642487 frameshift variant -/T delins 7.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908808
rs121908808 		0.925 0.160 7 117652851 frameshift variant -/T delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs193922510
rs193922510 		0.925 0.160 7 117603683 frameshift variant -/T delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908785
rs121908785 		0.925 0.160 7 117542050 frameshift variant -/TA delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs387906360
rs387906360 		0.925 0.160 7 117540248 frameshift variant -/TC delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs1554390864
rs1554390864 		0.925 0.160 7 117602847 frameshift variant -/TG delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908784
rs121908784 		0.925 0.160 7 117642464 frameshift variant A/- del 1.4E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908801
rs121908801 		0.925 0.160 7 117530937 frameshift variant A/- delins 2.1E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs193922505
rs193922505 		0.925 0.160 7 117590363 frameshift variant A/- delins 1.2E-05 1.4E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs397508192
rs397508192 		0.925 0.160 7 117548770 frameshift variant A/- delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs397508824
rs397508824 		0.925 0.160 7 117540215 frameshift variant A/- delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
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: 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: rs121908757
rs121908757 		0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs397508535
rs397508535 		0.925 0.160 7 117611740 missense variant A/C snv 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs397508288
rs397508288 		0.882 0.200 7 117590409 missense variant A/C;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 0
dbSNP: rs397508464
rs397508464 		0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs397508705
rs397508705 		0.925 0.160 7 117666906 splice acceptor variant A/C;G snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs74467662
rs74467662 		0.925 0.160 7 117509145 splice region variant A/C;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 0
dbSNP: rs397508761
rs397508761 		0.925 0.160 7 117534368 splice region variant A/C;G;T snv 1.6E-05; 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
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: 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: 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