rs213950, CFTR-AS1;CFTR

N. diseases: 16
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.100 1.000 10 1992 2015
Congenital bilateral aplasia of vas deferens
210 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.080 1.000 8 1998 2018
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
51 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2019 2019
Asthma
CUI: C0004096
Disease: Asthma
1536 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2019 2019
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2010 2010
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2008 2008
Congenital anomaly of the kidney
CUI: C0266292
Disease: Congenital anomaly of the kidney
4 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2016 2016
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2010 2010
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2008 2008
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 1999 1999
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2012 2012
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2010 2010
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
58 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2005 2005
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2008 2008