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: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.900 0.923 13 2007 2019
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.880 1.000 10 2007 2018
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.840 1.000 5 2008 2012
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.820 1.000 4 2011 2019
dbSNP: rs12526453
rs12526453
PHACTR1
5 0.827 0.160 6 12927312 intron variant C/G snv 0.27 0.820 1.000 3 2009 2015
dbSNP: rs9982601
rs9982601 		4 0.851 0.080 21 34226827 intron variant C/T snv 0.15 0.820 1.000 3 2009 2016
dbSNP: rs10738607
rs10738607
CDKN2B-AS1
4 0.925 0.080 9 22088095 intron variant A/G snv 0.42 0.810 1.000 3 2007 2018
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.810 1.000 3 2009 2017
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.810 0.500 2 2009 2014
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.810 1.000 2 2009 2012
dbSNP: rs11748327
rs11748327 		2 1.000 0.080 5 4029676 downstream gene variant C/T snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs1746048
rs1746048 		8 0.776 0.120 10 44280376 downstream gene variant C/T snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs3803915
rs3803915
AP3D1
1 1.000 0.080 19 2160530 intron variant C/A;T snv 0.800 1.000 1 2015 2015
dbSNP: rs4618210
rs4618210
PLCL2
1 1.000 0.080 3 17082892 intron variant A/G snv 0.56 0.800 1.000 1 2015 2015
dbSNP: rs6725887
rs6725887
WDR12
4 0.851 0.080 2 202881162 intron variant T/C snv 8.9E-02 0.800 1.000 1 2009 2009
dbSNP: rs6929846
rs6929846
BTN2A1
10 0.827 0.160 6 26458037 5 prime UTR variant T/C snv 0.70 0.780 1.000 8 2011 2014
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.770 1.000 8 2007 2013
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.740 1.000 4 2011 2011
dbSNP: rs1333045
rs1333045
CDKN2B-AS1
14 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 0.730 1.000 4 2007 2018
dbSNP: rs9925481
rs9925481
CLEC16A
5 0.882 0.160 16 11003622 intron variant C/G;T snv 0.730 1.000 4 2009 2011
dbSNP: rs12373237
rs12373237
LAMA3
5 0.851 0.200 18 23845972 intron variant G/A snv 0.47 0.720 1.000 3 2010 2011
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.720 0.667 3 2007 2011
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.720 1.000 2 2005 2007
dbSNP: rs1048990
rs1048990
PSMA6
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.720 1.000 2 2008 2009
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.720 1.000 2 2003 2004