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: 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