C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II ×
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: 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