C7, complement C7, 730

N. diseases: 16; N. variants: 11
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: rs121964920
rs121964920 		0.925 0.080 5 40959520 missense variant C/A;T snv 2.3E-03; 1.6E-05
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 3 1996 1998
dbSNP: rs121964921
rs121964921 		1.000 0.080 5 40955428 missense variant G/A;C;T snv 1.6E-05; 1.3E-04; 5.3E-05
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 3 1996 1998
dbSNP: rs541873000
rs541873000 		1.000 0.080 5 40972564 missense variant G/C snv
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 3 1996 1998
dbSNP: rs74480769
rs74480769 		5 40972109 intron variant A/G snv 2.8E-02 3.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs531103546
rs531103546 		1.000 0.080 5 40936337 splice acceptor variant G/T snv 1.2E-04 1.4E-05
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs113187203
rs113187203 		1.000 0.080 5 40972580 missense variant G/A;T snv 3.9E-04; 2.1E-05
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs121964920
rs121964920 		0.925 0.080 5 40959520 missense variant C/A;T snv 2.3E-03; 1.6E-05
CUI: C4017564
Disease: C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL 		0.700 0
dbSNP: rs121964922
rs121964922 		1.000 0.080 5 40958230 stop gained T/A snv
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs369349760
rs369349760 		1.000 0.080 5 40945289 missense variant G/A snv 1.4E-04 1.7E-04
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs387906509
rs387906509 		1.000 0.080 5 40979743 stop gained T/A snv
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1063499
rs1063499 		0.925 0.120 5 40955459 missense variant G/C snv 0.58 0.52
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1063499
rs1063499 		0.925 0.120 5 40955459 missense variant G/C snv 0.58 0.52
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs121964921
rs121964921 		1.000 0.080 5 40955428 missense variant G/A;C;T snv 1.6E-05; 1.3E-04; 5.3E-05
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		Infections 0.010 1.000 1 2003 2003
dbSNP: rs6876739
rs6876739 		5 40938240 intron variant T/C snv 0.48
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		Infections 0.010 1.000 1 2016 2016