CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Obstructive azoospermia ×
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: rs1300867348
rs1300867348 		0.925 0.040 7 117664776 missense variant A/G snv
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs397508638
rs397508638 		0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80034486
rs80034486 		0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2011 2011