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: 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: 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: 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
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: rs121908802
rs121908802 		0.851 0.160 7 117535263 missense variant C/T 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: rs121908803
rs121908803 		0.925 0.160 7 117535281 missense variant C/A;T 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: rs121908805
rs121908805 		0.925 0.160 7 117559468 stop gained C/A;G;T snv 1.2E-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: 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: rs121908810
rs121908810 		0.925 0.160 7 117592457 stop gained C/T snv 4.4E-06 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: rs121908811
rs121908811 		0.925 0.160 7 117627712 frameshift variant C/- del 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: rs121908812
rs121908812 		0.925 0.160 7 117592178 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: rs121909005
rs121909005 		0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 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: rs121909006
rs121909006 		0.925 0.160 7 117590360 missense variant T/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: rs121909008
rs121909008 		0.925 0.160 7 117603612 missense variant A/G 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: rs121909012
rs121909012 		0.925 0.160 7 117594990 stop gained C/T snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121909017
rs121909017 		0.851 0.160 7 117559546 missense variant C/T 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: rs121909019
rs121909019 		0.925 0.160 7 117611638 missense variant G/A;T snv 3.2E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121909021
rs121909021 		0.925 0.160 7 117540276 missense variant C/T snv 1.1E-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: rs121909036
rs121909036 		0.925 0.160 7 117611635 missense variant T/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: rs121909043
rs121909043 		0.882 0.160 7 117667029 stop gained C/A;G snv 1.2E-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: rs121909047
rs121909047 		0.925 0.160 7 117590355 missense variant C/A snv 1.2E-05 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: 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: rs139304906
rs139304906 		0.925 0.160 7 117611671 missense variant T/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