CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Hereditary pancreatitis ×
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: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.720 1.000 2 2000 2000
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs397508687
rs397508687 		0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs76371115
rs76371115 		0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121908753
rs121908753 		0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121908761
rs121908761 		0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121908792
rs121908792 		0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121908799
rs121908799 		0.851 0.160 7 117592218 frameshift variant AA/G delins
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121909005
rs121909005 		0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121909017
rs121909017 		0.851 0.160 7 117559546 missense variant C/T snv 8.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs267606723
rs267606723 		0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs397508464
rs397508464 		0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs397508759
rs397508759 		0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs397508778
rs397508778 		0.851 0.160 7 117535326 stop gained C/T snv 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs74551128
rs74551128 		0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs75039782
rs75039782 		0.851 0.160 7 117639961 intron variant C/G;T snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs77284892
rs77284892 		0.851 0.160 7 117509047 stop gained G/A;T snv 2.4E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs77834169
rs77834169 		0.851 0.160 7 117530974 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.0E-04
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs78802634
rs78802634 		0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs80282562
rs80282562 		0.851 0.160 7 117534318 missense variant G/A snv 1.6E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs141115171
rs141115171 		1.000 0.040 7 117540210 missense variant T/G snv 1.6E-05 7.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121908802
rs121908802 		0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0