Source: CURATED ×
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: rs12425791
rs12425791 		1 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.890 0.900 1 2009 2016
dbSNP: rs2107595
rs2107595 		8 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.850 1.000 2 2012 2019
dbSNP: rs11984041
rs11984041
HDAC9
2 0.925 0.080 7 18992312 intron variant C/T snv 0.13 0.830 1.000 1 2012 2015
dbSNP: rs2200733
rs2200733 		4 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.820 1.000 2 2008 2013
dbSNP: rs556621
rs556621 		1 1.000 6 44626422 intergenic variant T/G snv 0.73 0.820 1.000 1 2012 2017
dbSNP: rs1799963
rs1799963
F2
10 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.810 1.000 5 2001 2016
dbSNP: rs16851055
rs16851055
SPSB4
1 3 141080371 non coding transcript exon variant G/A snv 0.26 0.800 1.000 2 2012 2014
dbSNP: rs12646447
rs12646447 		1 4 110778170 intergenic variant T/C snv 0.15 0.800 1.000 1 2014 2014
dbSNP: rs13407662
rs13407662
ASB3
1 2 53555422 intron variant C/T snv 4.4E-02 0.800 1.000 1 2012 2012
dbSNP: rs161802
rs161802
PARK7
1 1 7982766 intron variant G/T snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.800 1.000 1 2014 2014
dbSNP: rs2238151
rs2238151
ALDH2
2 1.000 0.040 12 111774029 intron variant T/C snv 0.52 0.800 1.000 1 2012 2012
dbSNP: rs225132
rs225132 		1 1 8035440 intron variant T/G snv 0.27 0.800 1.000 1 2014 2014
dbSNP: rs6843082
rs6843082 		2 0.925 0.120 4 110796911 non coding transcript exon variant G/A snv 0.71 0.800 1.000 1 2012 2012
dbSNP: rs7506045
rs7506045
IMPA2
1 1.000 0.080 18 11987273 intron variant C/T snv 0.10 0.800 1.000 1 2007 2007
dbSNP: rs879324
rs879324
ZFHX3
1 1.000 0.080 16 73034779 intron variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
NOS3
1 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.780 0.875 1 2007 2018
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
21 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.720 1.000 2 2009 2016
dbSNP: rs12204590
rs12204590
LINC01394 ; LOC112267978
1 1.000 0.080 6 1337158 intergenic variant T/A snv 0.14 0.720 1.000 1 2016 2017
dbSNP: rs2230500
rs2230500
PRKCH
2 0.925 0.080 14 61457521 missense variant G/A snv 3.1E-02 1.6E-02 0.720 1.000 1 2007 2014
dbSNP: rs9521634
rs9521634
COL4A1
1 13 110181552 intron variant T/A;C snv 0.710 1.000 2 2018 2018
dbSNP: rs1122608
rs1122608
SMARCA4
8 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.710 1.000 1 2014 2014
dbSNP: rs4471613
rs4471613
ALDH1A2
2 1.000 0.080 15 58259495 intron variant G/A snv 4.3E-02 0.710 1.000 1 2015 2015
dbSNP: rs720470
rs720470
LOC105372798
1 21 37561586 intergenic variant T/C snv 0.28 0.710 1.000 1 2018 2018
dbSNP: rs780094
rs780094
GCKR
43 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.710 1.000 1 2010 2016