Source: BEFREE ×
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: rs193922136
rs193922136
CD40LG
1 0.925 0.120 X 136659390 missense variant C/A;T snv 0.820 1.000 2 1993 2019
dbSNP: rs104894769
rs104894769
CD40LG
1 1.000 0.120 X 136659093 missense variant T/A;C snv 0.810 1.000 1 1993 2019
dbSNP: rs193922135
rs193922135
CD40LG
1 1.000 0.120 X 136648279 stop gained C/T snv 0.710 1.000 1 1998 1998
dbSNP: rs104894324
rs104894324
AICDA
2 0.882 0.120 12 8606951 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1085307733
rs1085307733
CD40LG
1 1.000 0.120 X 136659287 stop gained C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs148594123
rs148594123
CD40LG
1 1.000 0.120 X 136659284 missense variant G/A snv 1.1E-02 1.0E-02 0.010 1.000 1 2012 2012