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: rs121909607
rs121909607
FGA
4 0.882 0.160 4 154589513 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs121909608
rs121909608
FGA
1 1.000 4 154589505 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs121909616
rs121909616
FGB
1 1.000 4 154565823 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs121909625
rs121909625
FGB
2 0.925 0.080 4 154565832 stop gained C/T snv 1.2E-05 5.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs121913087
rs121913087
FGG
2 0.925 0.080 4 154606933 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs121913088
rs121913088
FGG
2 0.925 0.080 4 154606932 missense variant C/T snv 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs146387238
rs146387238
FGA
3 0.882 0.120 4 154587511 splice donor variant C/A;G snv 5.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs587776837
rs587776837
FGG
2 0.925 0.080 4 154612527 splice region variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs768849283
rs768849283
PRF1
7 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0
dbSNP: rs1317589749
rs1317589749
FGB
2 0.925 0.080 4 154570471 missense variant T/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1428869937
rs1428869937
GGTLC3
1 1.000 22 18517816 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs75848804
rs75848804
FGG
4 0.882 0.080 4 154604995 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs772014512
rs772014512
FGB
2 0.925 0.080 4 154567772 missense variant C/T snv 4.8E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs894077860
rs894077860
FGB
2 0.925 0.080 4 154569660 stop gained C/T snv 0.010 1.000 1 2013 2013