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: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.900 0.944 36 2007 2019
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.890 1.000 12 2007 2019
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.840 0.875 8 2013 2019
dbSNP: rs2891168
rs2891168
CDKN2B-AS1
5 0.851 0.160 9 22098620 intron variant A/G snv 0.40 0.820 1.000 6 2007 2018
dbSNP: rs974819
rs974819 		6 0.807 0.080 11 103789839 intron variant T/A;C snv 0.820 1.000 4 2012 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.810 1.000 5 2013 2018
dbSNP: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.810 1.000 4 2013 2018
dbSNP: rs10947789
rs10947789
KCNK5
2 0.925 0.080 6 39207146 intron variant T/C snv 0.18 0.810 1.000 3 2013 2018
dbSNP: rs1333042
rs1333042
CDKN2B-AS1
7 0.827 0.120 9 22103814 intron variant A/G snv 0.63 0.810 1.000 3 2007 2018
dbSNP: rs1561198
rs1561198
VAMP5
3 0.882 0.120 2 85582866 upstream gene variant C/T snv 0.52 0.810 1.000 3 2013 2018
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.810 1.000 3 2013 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.800 0.900 20 1997 2018
dbSNP: rs16986953
rs16986953 		1 1.000 0.040 2 19742712 intergenic variant G/A snv 0.11 0.800 1.000 5 2013 2018
dbSNP: rs11617955
rs11617955
COL4A1
1 1.000 0.040 13 110165755 intron variant T/A snv 9.3E-02 0.800 1.000 3 2013 2018
dbSNP: rs12936587
rs12936587 		5 0.882 0.080 17 17640408 regulatory region variant G/A snv 0.38 0.800 1.000 3 2013 2018
dbSNP: rs264
rs264
LPL
6 0.882 0.080 8 19955669 intron variant G/A snv 0.14 0.800 1.000 3 2013 2018
dbSNP: rs2954029
rs2954029 		14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.800 1.000 3 2013 2018
dbSNP: rs6841581
rs6841581
EDNRA
4 0.882 0.080 4 147480038 upstream gene variant G/A;T snv 0.800 1.000 3 2013 2018
dbSNP: rs7173743
rs7173743
MORF4L1
6 0.851 0.120 15 78849442 intron variant T/C snv 0.45 0.800 1.000 3 2013 2018
dbSNP: rs1746049
rs1746049 		1 1.000 0.040 10 44280862 downstream gene variant C/T snv 0.23 0.800 1.000 2 2007 2016
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.800 1.000 2 2014 2018
dbSNP: rs2252641
rs2252641
TEX41 ; LOC100505498
2 1.000 0.040 2 145043894 non coding transcript exon variant T/C;G snv 0.58 0.800 1.000 2 2013 2018
dbSNP: rs246600
rs246600
ARHGAP26
1 1.000 0.040 5 143137332 intron variant C/T snv 0.42 0.800 1.000 2 2013 2018
dbSNP: rs273909
rs273909
SLC22A4 ; MIR3936HG
1 1.000 0.040 5 132331660 intron variant A/G snv 9.5E-02 0.800 1.000 2 2013 2018
dbSNP: rs2895811
rs2895811
HHIPL1
4 0.851 0.080 14 99667605 intron variant T/A;C snv 0.800 1.000 2 2013 2018