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: rs210143
rs210143
BAK1 ; GGNBP1
6 0.827 0.160 6 33579153 intron variant T/C snv 0.74 0.700 1.000 2 2017 2017
dbSNP: rs2456449
rs2456449
PCAT1 ; CASC19
5 0.827 0.280 8 127180736 intron variant A/G snv 0.30 0.720 1.000 2 2010 2010
dbSNP: rs2511714
rs2511714 		2 0.925 0.120 8 102566646 regulatory region variant T/G snv 0.41 0.800 1.000 2 2013 2016
dbSNP: rs2521269
rs2521269
TSPAN32 ; C11orf21
2 0.925 0.120 11 2299865 intron variant C/A;T snv 0.800 1.000 2 2013 2016
dbSNP: rs3770745
rs3770745
QPCT
2 0.925 0.120 2 37368946 intron variant C/T snv 0.43 0.800 1.000 2 2013 2016
dbSNP: rs391525
rs391525
IRF8
3 0.882 0.200 16 85910833 intron variant A/G;T snv 0.35 0.800 1.000 2 2011 2012
dbSNP: rs391855
rs391855 		2 0.925 0.120 16 85895015 upstream gene variant A/T snv 0.52 0.700 1.000 2 2016 2017
dbSNP: rs4368253
rs4368253 		2 0.925 0.120 18 59955055 TF binding site variant T/A;C snv 0.800 1.000 2 2013 2016
dbSNP: rs4406737
rs4406737
FAS
2 0.925 0.120 10 88999967 intron variant A/G snv 0.50 0.800 1.000 2 2013 2016
dbSNP: rs4987856
rs4987856
BCL2
2 0.925 0.120 18 63126261 3 prime UTR variant C/T snv 6.0E-02 0.800 1.000 2 2013 2016
dbSNP: rs58055674
rs58055674
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111074216 intron variant T/C snv 0.13 0.700 1.000 2 2016 2017
dbSNP: rs6449182
rs6449182
CD38
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.020 1.000 2 2009 2012
dbSNP: rs7169431
rs7169431 		2 0.925 0.200 15 56048698 intergenic variant A/G;T snv 0.720 1.000 2 2010 2010
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2019
dbSNP: rs9514828
rs9514828
TNFSF13B
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.020 1.000 2 2015 2016
dbSNP: rs10028805
rs10028805
BANK1
3 0.882 0.160 4 101816093 intron variant G/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1041569
rs1041569
TNFSF13B
1 1.000 0.120 13 108267195 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1050976
rs1050976
IRF4
4 0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997