Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs78655421
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.880 1.000 0 1993 2014
dbSNP: rs121908752
rs121908752
CFTR
0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2007
dbSNP: rs121908759
rs121908759
CFTR
0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2007
dbSNP: rs121909011
rs121909011
CFTR
0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2007
dbSNP: rs145449046
rs145449046
CFTR
0.925 0.160 7 117592541 stop gained C/G;T snv 1.3E-04; 5.5E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2007
dbSNP: rs151048781
rs151048781
CFTR
0.925 0.160 7 117603730 missense variant G/A;C snv 5.6E-05; 8.0E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2013
dbSNP: rs397508759
rs397508759
CFTR
0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2007
dbSNP: rs397508783
rs397508783
CFTR
0.925 0.160 7 117535363 missense variant T/A snv 2.4E-05 7.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 1.000 6 1995 2007
dbSNP: rs113993958
rs113993958
CFTR
0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 0
dbSNP: rs147422190
rs147422190
CFTR ; CFTR-AS1
0.925 0.160 7 117548758 missense variant G/T snv 2.6E-04 3.3E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 0
dbSNP: rs1800098
rs1800098
CFTR
1.000 0.040 7 117590400 missense variant G/C;T snv 5.1E-03; 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 0
dbSNP: rs191456345
rs191456345
CFTR
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 		0.800 1.000 0 1995 2009
dbSNP: rs200321110
rs200321110
CFTR
0.925 0.160 7 117611646 missense variant G/A snv 2.6E-04 2.4E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.800 0
dbSNP: rs11971167
rs11971167
CFTR
0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.720 1.000 0 1999 2008
dbSNP: rs115545701
rs115545701
CFTR
0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.710 1.000 0 1999 1999
dbSNP: rs75789129
rs75789129
CFTR
0.925 0.160 7 117587820 missense variant A/G snv 3.5E-03 1.2E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.710 1.000 0 2013 2013
dbSNP: rs140502196
rs140502196
CFTR
1.000 0.040 7 117530957 missense variant C/G;T snv 6.0E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 6 1995 2007
dbSNP: rs141033578
rs141033578
CFTR
0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 6 1995 2007
dbSNP: rs1800100
rs1800100
CFTR
0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 6 1995 2007
dbSNP: rs1800103
rs1800103
CFTR
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 		0.700 1.000 6 1995 2007
dbSNP: rs1800111
rs1800111
CFTR
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 6 1995 2007
dbSNP: rs397508220
rs397508220
CFTR
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 		0.700 1.000 6 1995 2007
dbSNP: rs397508225
rs397508225
CFTR ; CFTR-AS1
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 		0.700 1.000 6 1995 2007
dbSNP: rs397508241
rs397508241
CFTR
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 		0.700 1.000 6 1995 2007
dbSNP: rs397508363
rs397508363
CFTR
1.000 0.040 7 117592464 missense variant G/A;C;T snv 4.5E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		0.700 1.000 6 1995 2007