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: rs121964912
rs121964912
CFI
2 0.925 0.120 4 109746398 missense variant T/A;C snv 1.2E-05; 4.0E-06 0.700 1.000 3 1996 2007
dbSNP: rs121964916
rs121964916
CFI
2 0.925 0.120 4 109760567 missense variant C/A;T snv 0.700 1.000 3 1996 2007
dbSNP: rs1553915717
rs1553915717
CFI
3 0.882 0.120 4 109766720 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs121909621
rs121909621
FGB
2 0.925 0.120 4 154569703 missense variant T/G snv 0.700 0
dbSNP: rs121909622
rs121909622
FGB
2 0.925 0.120 4 154570463 missense variant G/A snv 0.700 0
dbSNP: rs146387238
rs146387238
FGA
3 0.882 0.120 4 154587511 splice donor variant C/A;G snv 5.6E-05 0.700 0
dbSNP: rs587776837
rs587776837
FGG
2 0.925 0.080 4 154612527 splice region variant C/T snv 0.700 0
dbSNP: rs587776838
rs587776838
FGG
1 1.000 0.080 4 154612013 splice region variant C/T snv 0.700 0
dbSNP: rs587776839
rs587776839
FGG
1 1.000 0.080 4 154608970 intron variant T/A snv 0.700 0
dbSNP: rs606231223
rs606231223
FGB
1 1.000 0.080 4 154569320 intron variant C/T snv 0.700 0
dbSNP: rs606231224
rs606231224
FGB
1 1.000 0.080 4 154569800 splice donor variant G/T snv 0.700 0
dbSNP: rs606231225
rs606231225
FGA
1 1.000 0.080 4 154586717 frameshift variant -/A delins 0.700 0