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: rs1555599211
rs1555599211
TRIM25 ; DGKE
1 1.000 0.120 17 56848105 intron variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs121913060
rs121913060
CFH
2 0.925 0.120 1 196747131 stop gained G/T snv 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs35366573
rs35366573
CD46
3 0.882 0.120 1 207785101 missense variant C/T snv 1.5E-02 1.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs760810105
rs760810105
CLU
1 1.000 0.120 8 27598502 missense variant G/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001