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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2013 2015
dbSNP: rs4409766
rs4409766
BORCS7 ; BORCS7-ASMT
6 1.000 0.040 10 102856906 intron variant T/C snv 0.14 0.700 1.000 2 2015 2018
dbSNP: rs223331
rs223331
CISD2
5 0.851 0.160 4 102872408 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.020 < 0.001 2 2006 2008
dbSNP: rs34911341
rs34911341
GHRL ; GHRLOS
5 0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03 0.010 1.000 1 2010 2010
dbSNP: rs26802
rs26802
GHRL ; GHRLOS
3 0.925 0.160 3 10290681 intron variant T/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs12413409
rs12413409
CNNM2
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.020 1.000 2 2018 2018
dbSNP: rs11191514
rs11191514
CNNM2
2 10 103013607 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.780 1.000 9 2011 2018
dbSNP: rs11191580
rs11191580
NT5C2
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs12219304
rs12219304
NT5C2
1 10 103171827 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs112913898
rs112913898 		3 10 103199143 intergenic variant G/A snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs8702
rs8702
KLC1
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs4387287
rs4387287
STN1
4 10 103918139 5 prime UTR variant A/C snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs117564807
rs117564807
COL17A1
1 10 104040357 missense variant C/G;T snv 1.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs7950273
rs7950273
PDGFD
5 0.925 0.120 11 104160870 intron variant C/G snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs28868104
rs28868104 		2 1.000 0.080 3 104241993 intergenic variant C/T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs530391015
rs530391015
INF2
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs2066715
rs2066715
ABCA1
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs138533962
rs138533962
STYK1
1 12 10620278 missense variant G/A;T snv 4.0E-05; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 2 2015 2018
dbSNP: rs12046278
rs12046278
CASZ1
3 1 10739520 intron variant T/C snv 0.36 0.700 1.000 1 2019 2019