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: rs180749
rs180749
AGXT2
1 1.000 0.040 5 35033500 missense variant G/A snv 0.95 0.94 0.010 1.000 1 2015 2015
dbSNP: rs749582333
rs749582333
NOX4
2 0.925 0.040 11 89340157 frameshift variant G/- delins 0.020 1.000 2 2016 2017
dbSNP: rs13447720
rs13447720
MRE11
2 0.925 0.040 11 94432160 intron variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs138227502
rs138227502
ADIPOQ ; ADIPOQ-AS1
2 0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs16881446
rs16881446
HS3ST1
2 0.925 0.040 4 11406961 intron variant T/C snv 0.27 0.700 1.000 1 2004 2004
dbSNP: rs4142986
rs4142986
COL15A1
2 0.925 0.040 9 99052344 intron variant C/A;G;T snv 1.1E-04; 0.75; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4552883
rs4552883 		2 0.925 0.040 8 139234730 regulatory region variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs499952
rs499952
MRE11
2 0.925 0.040 11 94449826 intron variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs6918289
rs6918289
ADCY10P1
2 0.925 0.040 6 41134089 intron variant G/T snv 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs7177922
rs7177922
RYR3
2 0.925 0.040 15 33616418 intron variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs750996166
rs750996166
USF1
2 0.925 0.040 1 161041409 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs767523236
rs767523236
MPO
2 0.925 0.040 17 58279033 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs769442590
rs769442590
LPL
2 0.925 0.040 8 19960927 missense variant A/C;G snv 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs915014
rs915014
MTHFR ; C1orf167
2 0.925 0.040 1 11789412 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1056515
rs1056515
RGS5
3 0.882 0.040 1 163143470 3 prime UTR variant G/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs12347433
rs12347433
TNC ; DELEC1
3 0.882 0.040 9 115035318 synonymous variant T/C snv 0.23 0.21 0.010 1.000 1 2011 2011
dbSNP: rs1403934301
rs1403934301
SHBG
3 0.882 0.120 17 7631317 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1490867890
rs1490867890
MCL1 ; LOC107985203
3 0.882 0.080 1 150579475 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs201989364
rs201989364
ADIPOQ ; ADIPOQ-AS1
3 0.882 0.080 3 186854295 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs212528
rs212528
ECE1
3 0.925 0.040 1 21259168 intron variant T/C snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2269422
rs2269422
AGER
3 0.882 0.040 6 32183517 intron variant T/C snv 1.7E-02 5.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs28937313
rs28937313
ABCA1
3 0.882 0.160 9 104822520 missense variant T/C snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs537765533
rs537765533
IL1RN
3 0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs539179964
rs539179964
RIMS2
3 0.882 0.080 8 104248720 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2000 2000