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: rs760277934
rs760277934
C1R
2 0.925 0.160 12 7088853 missense variant C/G;T snv 4.1E-06 0.800 1.000 1 2016 2016
dbSNP: rs769707492
rs769707492
C1R
2 0.925 0.160 12 7088721 stop gained G/A;C;T snv 4.1E-06 0.800 1.000 1 2016 2016
dbSNP: rs1057515579
rs1057515579
C1R
2 0.925 0.160 12 7088856 missense variant A/G snv 0.800 0
dbSNP: rs1057518643
rs1057518643
C1R
2 0.925 0.160 12 7088886 missense variant T/C snv 0.800 0
dbSNP: rs1057518645
rs1057518645
C1R
2 0.925 0.160 12 7086423 missense variant C/A snv 0.800 0
dbSNP: rs1057519026
rs1057519026
C1R
2 0.925 0.160 12 7088865 missense variant C/T snv 0.800 0
dbSNP: rs1057518646
rs1057518646
C1R
2 0.925 0.160 12 7088721 protein altering variant GCACTTGATGA/TGTCC delins 0.700 0
dbSNP: rs1057519025
rs1057519025
C1R ; C1RL
2 0.925 0.160 12 7091533 missense variant GA/AT mnv 0.700 0
dbSNP: rs1057519576
rs1057519576
C1R
2 0.925 0.160 12 7088850 missense variant T/C snv 0.700 0
dbSNP: rs1057519577
rs1057519577
C1R
2 0.925 0.160 12 7088636 missense variant A/G snv 0.700 0
dbSNP: rs1057519578
rs1057519578
C1R
2 0.925 0.160 12 7086404 stop gained C/G;T snv 0.700 0
dbSNP: rs1057519579
rs1057519579
C1R
2 0.925 0.160 12 7086383 missense variant G/C snv 0.700 0
dbSNP: rs1060499554
rs1060499554
C1R
2 0.925 0.160 12 7082077 missense variant A/G snv 0.700 0