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: 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
dbSNP: rs397508241
rs397508241 		1.000 0.040 7 117587785 missense variant G/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: 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: rs397508790
rs397508790 		1.000 0.040 7 117535399 missense variant T/A 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: 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: 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: 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: 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: 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
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: rs121908745
rs121908745 		0.925 0.160 7 117559587 inframe deletion ATC/- delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908746
rs121908746 		0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins 7.7E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908767
rs121908767 		0.925 0.160 7 117610593 inframe deletion ATAGTG/- delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908768
rs121908768 		0.925 0.160 7 117540157 inframe deletion TCT/- delins 7.0E-05
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: rs121908771
rs121908771 		0.925 0.160 7 117534316 frameshift variant T/-;TT delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908779
rs121908779 		0.925 0.160 7 117592090 frameshift variant CTCAAAACT/A delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908780
rs121908780 		0.925 0.160 7 117592140 frameshift variant GAAATTCAATCCT/AGAAA 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: 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: rs121908786
rs121908786 		0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA 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: rs121908799
rs121908799 		0.851 0.160 7 117592218 frameshift variant AA/G delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0