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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2019
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 2 1997 2016
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs228014
rs228014
ASTN1
1 1.000 0.120 1 177002472 intron variant T/C snv 0.58 0.010 < 0.001 1 2009 2009
dbSNP: rs34676223
rs34676223
MDS2
2 0.925 0.120 1 23617245 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs41271473
rs41271473
RHOU
2 0.925 0.120 1 228744549 3 prime UTR variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs13397985
rs13397985
SP110 ; SP140
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.830 1.000 6 2008 2014
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs757978
rs757978
FARP2
4 0.851 0.200 2 241431686 missense variant C/A;T snv 4.1E-06; 9.3E-02 0.820 1.000 3 2010 2013
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: 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: rs7578199
rs7578199
HDLBP
2 0.925 0.120 2 241253433 missense variant T/C;G snv 0.19; 8.4E-05 0.800 1.000 2 2013 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: rs1057519961
rs1057519961
SF3B1
4 0.851 0.240 2 197402759 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057520010
rs1057520010
XPO1
5 0.882 0.200 2 61492336 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11688943
rs11688943
PPIL3
1 1.000 0.120 2 200875545 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs13015798
rs13015798
FAM126B
2 0.925 0.120 2 201044792 intron variant A/G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs13401811
rs13401811
ACOXL
2 0.925 0.120 2 110858527 intron variant G/A snv 0.19 0.800 1.000 1 2013 2013