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: rs4737264
rs4737264
XKR4
1 8 55198762 intron variant A/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs533235539
rs533235539
CSGALNACT1
2 8 19405853 missense variant A/C snv 1.5E-04 9.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2012 2012
dbSNP: rs11017056
rs11017056
C10orf143
3 1.000 0.080 10 130032376 intron variant A/C;T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs801378
rs801378 		5 1.000 2 194695273 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.040 0.500 4 2006 2013
dbSNP: rs11076161
rs11076161
MT1A
2 1.000 0.080 16 56639236 intron variant A/G snv 0.71 0.67 0.010 1.000 1 2008 2008
dbSNP: rs121909088
rs121909088
DNM2
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs17032980
rs17032980 		3 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs3761980
rs3761980
MAPK14 ; SLC26A8
7 0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs397515442
rs397515442
GDAP1
4 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2017 2017
dbSNP: rs745836948
rs745836948
LXN ; GFM1
2 1.000 0.040 3 158669595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs768947688
rs768947688
CHSY1
1 15 101178712 missense variant A/G snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs7985891
rs7985891
GPC6
5 1.000 13 93226778 non coding transcript exon variant A/G snv 3.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs9827908
rs9827908
LRIG1
5 1.000 3 66395177 intron variant A/G snv 5.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121909113
rs121909113
HSPB1
3 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1330950
rs1330950
LINC00551
5 1.000 13 106686453 intron variant C/A snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs765672269
rs765672269
IGFALS ; SPSB3
5 0.851 0.120 16 1792338 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016