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: rs56287471
rs56287471
IL12B ; LOC107986469
1 1.000 0.120 5 159323135 missense variant C/T snv 3.8E-04 1.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs6002551
rs6002551
CENPM
1 1.000 0.120 22 41942148 intron variant G/A snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs603097
rs603097 		1 1.000 0.120 18 54226736 upstream gene variant G/A snv 0.85 0.010 1.000 1 2013 2013
dbSNP: rs6736233
rs6736233
CASP8
1 1.000 0.120 2 201254251 intron variant G/C snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs754651345
rs754651345
IL12B ; LOC107986469
1 1.000 0.120 5 159326751 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764168570
rs764168570
RAF1
1 1.000 0.120 3 12608879 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs766588452
rs766588452
LEPR
1 1.000 0.120 1 65621389 missense variant A/C;G snv 8.0E-06; 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs78440425
rs78440425
CXCR5
1 1.000 0.120 11 118888302 intron variant G/A snv 1.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs80202369
rs80202369 		1 1.000 0.120 11 118873150 intergenic variant G/A snv 6.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs114216685
rs114216685
RAD54B ; FSBP
1 1.000 0.120 8 94391640 missense variant T/C snv 8.8E-04 3.9E-04 0.700 0
dbSNP: rs758835365
rs758835365
FAS
1 1.000 0.120 10 89010795 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs12211228
rs12211228
IRF4
2 1.000 0.120 6 408833 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2009 2009
dbSNP: rs10008492
rs10008492 		2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs13113
rs13113
CASP8
2 0.925 0.200 2 201287439 3 prime UTR variant T/A snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs161870
rs161870
MTRR
2 0.925 0.160 5 7878079 synonymous variant T/C snv 0.18 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1801181
rs1801181
CBS
2 0.925 0.160 21 43060506 synonymous variant G/A snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs207186
rs207186 		2 0.925 0.120 1 55359252 intron variant C/T snv 7.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs234706
rs234706
CBS
2 0.925 0.160 21 43065240 synonymous variant G/A snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs2855429
rs2855429
COL11A2
2 0.925 0.120 6 33190412 intron variant A/C snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs3132453
rs3132453
PRRC2A
2 0.925 0.200 6 31636267 missense variant T/G snv 0.96 0.95 0.010 1.000 1 2012 2012
dbSNP: rs3789068
rs3789068
BCL2L11 ; MIR4435-2HG
2 0.925 0.120 2 111151670 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs3813729
rs3813729
C1R ; C1RL
2 0.925 0.120 12 7089608 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4661636
rs4661636
CASP9
2 0.925 0.160 1 15496566 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs61733010
rs61733010
AKR1A1
2 0.925 0.120 1 45561805 missense variant C/G;T snv 4.0E-06; 4.3E-04 1.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs758837678
rs758837678
DECR1 ; NBN
2 0.925 0.120 8 90001503 missense variant C/T snv 0.010 1.000 1 2007 2007