C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
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: rs146187042
rs146187042 		0.925 0.080 1 56956889 stop gained G/A snv 1.2E-04 2.2E-04
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 3 1995 2009
dbSNP: rs41286844
rs41286844 		0.925 0.080 1 56940965 stop gained G/A;C;T snv 1.1E-03; 4.0E-06; 4.0E-06
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 2 1993 1995
dbSNP: rs1013579
rs1013579 		1 56956811 missense variant C/T snv 0.98 0.98
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12085435
rs12085435 		1.000 0.040 1 56949637 missense variant G/A snv 4.8E-02 5.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12092641
rs12092641 		1 56961277 intron variant T/C snv 5.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3216676
rs3216676 		1 56938892 intron variant A/-;AA;AAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs41452950
rs41452950 		1 56954954 intron variant A/G snv 5.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs612563
rs612563 		1 56932065 intron variant G/A;C;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs618184
rs618184 		1 56929058 downstream gene variant A/G snv 0.29
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs684782
rs684782 		1 56931409 intron variant C/T snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs78501968
rs78501968 		1 56965578 intron variant G/A snv 3.9E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs140813121
rs140813121 		1.000 1 56949599 stop gained G/A;T snv 2.0E-05
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.700 0
dbSNP: rs146187042
rs146187042 		0.925 0.080 1 56956889 stop gained G/A snv 1.2E-04 2.2E-04
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.700 0
dbSNP: rs150022116
rs150022116 		1.000 1 56956799 stop gained G/A;T snv 1.4E-04; 9.2E-05
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.700 0
dbSNP: rs372968576
rs372968576 		1.000 1 56956824 frameshift variant G/- delins 7.0E-06
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.700 0
dbSNP: rs398122867
rs398122867 		1.000 1 56952109 frameshift variant G/- delins
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.700 0
dbSNP: rs398122868
rs398122868 		1.000 1 56945878 frameshift variant -/CACAGCC delins 8.0E-06
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.700 0
dbSNP: rs41286844
rs41286844 		0.925 0.080 1 56940965 stop gained G/A;C;T snv 1.1E-03; 4.0E-06; 4.0E-06
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.700 0
dbSNP: rs12085435
rs12085435 		1.000 0.040 1 56949637 missense variant G/A snv 4.8E-02 5.5E-02
CUI: C3873491
Disease: Invasive meningococcal disease
Invasive meningococcal disease 		Infections 0.010 1.000 1 2015 2015