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: rs10900585
rs10900585
ATP2B4
1 1.000 0.040 1 203684896 intron variant G/T snv 0.81 0.810 1.000 1 2012 2013
dbSNP: rs11198918
rs11198918
GRK5
1 1.000 0.040 10 119423068 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1126535
rs1126535
CD40LG
1 1.000 0.040 X 136648396 synonymous variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs12085877
rs12085877
MASP2 ; TARDBP
1 1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1211375
rs1211375
LUC7L
1 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1466161664
rs1466161664
DHFR
1 1.000 0.040 5 80633925 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs200463093
rs200463093
SP110
1 1.000 0.040 2 230170675 synonymous variant T/C snv 2.5E-04; 4.0E-06 1.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs2275036
rs2275036
GRK5
1 1.000 0.040 10 119380809 splice region variant C/T snv 0.15 0.14 0.010 1.000 1 2015 2015
dbSNP: rs2296160
rs2296160
CR1
1 0.925 0.120 1 207621975 missense variant A/G snv 0.82 0.81 0.010 < 0.001 1 2015 2015
dbSNP: rs2706384
rs2706384
IRF1
1 1.000 0.040 5 132491188 intron variant G/T snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs2736191
rs2736191
NCR3
1 0.925 0.040 6 31593133 upstream gene variant C/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs3024944
rs3024944
STAT6
1 1.000 0.040 12 57111665 intron variant C/G snv 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs33930165
rs33930165
HBB
1 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs3811070
rs3811070
FUT9
1 1.000 0.040 6 96111973 intron variant C/G;T snv 0.42 0.010 1.000 1 2009 2009
dbSNP: rs3933769
rs3933769
FCGR2C
1 1.000 0.040 1 161589537 intron variant A/G snv 0.74 0.70 0.010 1.000 1 2016 2016
dbSNP: rs4752307
rs4752307
GRK5
1 1.000 0.040 10 119422897 intron variant G/A snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs4844600
rs4844600
CR1
1 1.000 0.040 1 207505962 missense variant A/C;G snv 5.2E-05; 0.82 0.010 < 0.001 1 2015 2015
dbSNP: rs5030738
rs5030738
FCGR3B
1 1.000 0.040 1 161629864 missense variant G/A;T snv 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs557754092
rs557754092
DDT ; DDTL
1 1.000 0.040 22 23971554 missense variant T/G snv 9.1E-04; 4.0E-06 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs778499956
rs778499956
PSMD9
1 1.000 0.040 12 121899786 missense variant C/G snv 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs8078340
rs8078340
NOS2
1 1.000 0.040 17 27802186 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs964756678
rs964756678
HPGDS
1 1.000 0.040 4 94302223 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs9658676
rs9658676
ACTA2 ; FAS
1 1.000 0.040 10 88990441 non coding transcript exon variant C/A snv 2.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs915942
rs915942
RPL10 ; SNORA70
2 0.925 0.040 X 154398397 splice region variant G/A snv 0.14 0.18 0.020 1.000 2 2014 2015
dbSNP: rs1193689718
rs1193689718
PKLR
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010