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: rs397508687
rs397508687
CFTR
0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.020 1.000 2 2000 2008
dbSNP: rs397508687
rs397508687
CFTR
0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.010 1.000 1 2008 2008
dbSNP: rs397508687
rs397508687
CFTR
0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		0.010 1.000 1 2001 2001
dbSNP: rs397508687
rs397508687
CFTR
0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis 		0.010 1.000 1 2003 2003
dbSNP: rs397508687
rs397508687
CFTR
0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.010 1.000 1 2000 2000