Source: BEFREE

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: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 0.875 16 1991 2019
dbSNP: rs397508638
rs397508638
CFTR
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 		0.020 1.000 2 2007 2011
dbSNP: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		0.010 1.000 1 2011 2011
dbSNP: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		0.010 1.000 1 2007 2007
dbSNP: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom 		0.010 1.000 1 1992 1992
dbSNP: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0002063
Disease: Alkalosis
Alkalosis 		0.010 1.000 1 2004 2004
dbSNP: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		0.010 1.000 1 2004 2004
dbSNP: rs397508638
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 < 0.001 1 1992 1992