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: 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: 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: rs121908796
rs121908796 		0.925 0.160 7 117590444 splice region variant G/A;T snv 2.4E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908797
rs121908797 		0.925 0.160 7 117606753 splice region variant G/A snv 4.0E-06 3.5E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs200337193
rs200337193 		0.925 0.160 7 117509031 splice region variant C/A;T snv 2.4E-05
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: 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: 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: rs78440224
rs78440224 		0.925 0.160 7 117534370 splice region variant G/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 0
dbSNP: rs80224560
rs80224560 		0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908792
rs121908792 		0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908793
rs121908793 		0.925 0.160 7 117535247 splice acceptor variant G/A;T snv 4.0E-06; 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: rs121908794
rs121908794 		0.925 0.160 7 117590352 splice acceptor variant G/A;C snv 4.0E-06 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: rs1351058559
rs1351058559 		0.925 0.160 7 117540099 splice acceptor variant G/A;C snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs1805177
rs1805177 		0.925 0.160 7 117548629 splice acceptor variant TTTTTT/-;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs193922515
rs193922515 		0.925 0.160 7 117610517 splice acceptor variant A/G;T snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs397508200
rs397508200 		0.925 0.160 7 117559463 splice acceptor variant G/A;C snv 3.2E-05 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: 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: rs397508734
rs397508734 		0.925 0.160 7 117534275 splice acceptor variant G/A;T snv 1.6E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs755416052
rs755416052 		0.925 0.160 7 117614611 splice acceptor variant A/G;T snv 4.0E-06; 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: rs76713772
rs76713772 		0.925 0.160 7 117587738 splice acceptor variant G/A snv 7.2E-05 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: 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: 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