Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140813121
rs140813121
C8B
1 1.000 1 56949599 stop gained G/A;T snv 2.0E-05 0.700 0
dbSNP: rs146187042
rs146187042
C8B
2 0.925 0.080 1 56956889 stop gained G/A snv 1.2E-04 2.2E-04 0.700 0
dbSNP: rs150022116
rs150022116
C8B
1 1.000 1 56956799 stop gained G/A;T snv 1.4E-04; 9.2E-05 0.700 0
dbSNP: rs372968576
rs372968576
C8B
1 1.000 1 56956824 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs398122867
rs398122867
C8B
1 1.000 1 56952109 frameshift variant G/- delins 0.700 0
dbSNP: rs398122868
rs398122868
C8B
1 1.000 1 56945878 frameshift variant -/CACAGCC delins 8.0E-06 0.700 0
dbSNP: rs41286844
rs41286844
C8B
2 0.925 0.080 1 56940965 stop gained G/A;C;T snv 1.1E-03; 4.0E-06; 4.0E-06 0.700 0