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: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1514687
rs1514687
TPO
5 1.000 2 1434216 intron variant T/G snv 0.86 0.700 1.000 1 2014 2014
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: rs17108344
rs17108344
PTPRB ; LOC105369828
5 1.000 12 70560684 synonymous variant C/T snv 1.4E-02 3.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs1858826
rs1858826
GNGT1
3 1.000 0.080 7 93719703 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs1934951
rs1934951
CYP2C8
4 0.925 0.160 10 95038791 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs200092345
rs200092345
CSGALNACT1
2 8 19458576 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs209709
rs209709 		1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs213273
rs213273
HDAC9
5 1.000 7 18464885 intron variant G/A snv 0.96 0.700 1.000 1 2014 2014
dbSNP: rs266095
rs266095
CXCL12
5 1.000 10 44368720 downstream gene variant C/T snv 3.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs267606772
rs267606772
DNM2
3 0.925 0.080 19 10793799 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs28445017
rs28445017
LTA ; LOC100287329
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs28485846
rs28485846
UNC5D
7 0.807 0.240 8 35265058 intron variant C/T snv 5.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs301927
rs301927
EPHA6
1 3 97627774 intron variant G/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006
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: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs397515442
rs397515442
GDAP1
4 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs41268673
rs41268673
SCN9A ; SCN1A-AS1
1 2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4463516
rs4463516 		3 1.000 0.120 9 32867483 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4737264
rs4737264
XKR4
1 8 55198762 intron variant A/C snv 0.20 0.010 1.000 1 2013 2013
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