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: rs200206736
rs200206736
C1QC
1 1.000 1 22644123 missense variant G/A snv 1.3E-04 4.9E-05 0.800 0
dbSNP: rs121909581
rs121909581
C1QA
2 0.925 0.080 1 22639291 stop gained C/T snv 3.6E-05 0.700 0
dbSNP: rs1361922961
rs1361922961
C1QB
1 1.000 1 22659644 splice donor variant G/C;T snv 0.700 0
dbSNP: rs34139950
rs34139950
C1QA
1 1.000 1 22639317 stop gained G/A snv 0.700 0
dbSNP: rs34813378
rs34813378
C1QB
1 1.000 1 22661354 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs377549148
rs377549148
C1QC
1 1.000 1 22647250 stop gained C/T snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs752596663
rs752596663
C1QC
1 1.000 1 22647535 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs761681612
rs761681612
C1QC
1 1.000 1 22647256 frameshift variant CC/-;C delins 8.2E-06 1.4E-05 0.700 0