C6, complement C6, 729

N. diseases: 29; N. variants: 6
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: rs61469168
rs61469168 		1.000 0.080 5 41158763 frameshift variant C/- del 8.4E-04 3.2E-03
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 5 1996 2012
dbSNP: rs142881576
rs142881576 		1.000 0.080 5 41159152 stop gained G/A snv 1.4E-04 1.3E-04
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs398122811
rs398122811 		1.000 0.080 5 41201621 frameshift variant G/- delins
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs9200
rs9200 		1.000 0.080 5 41142504 3 prime UTR variant C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs10052999
rs10052999 		1.000 0.080 5 41165642 intron variant C/T snv 7.5E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs4400166
rs4400166 		1.000 0.040 5 41188189 intron variant G/A snv 0.53
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9200
rs9200 		1.000 0.080 5 41142504 3 prime UTR variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016