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: rs7865618
rs7865618
CDKN2B-AS1
11 0.776 0.240 9 22031006 non coding transcript exon variant G/A;T snv 0.820 1.000 3 2011 2017
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.810 1.000 5 2011 2017
dbSNP: rs9982601
rs9982601 		4 0.851 0.080 21 34226827 intron variant C/T snv 0.15 0.810 1.000 4 2011 2017
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.810 1.000 3 2011 2018
dbSNP: rs17228212
rs17228212
SMAD3
8 0.807 0.160 15 67166301 intron variant T/C snv 0.21 0.810 1.000 3 2007 2012
dbSNP: rs4773144
rs4773144
COL4A1 ; COL4A2
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.810 1.000 3 2011 2016
dbSNP: rs562338
rs562338 		21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.810 1.000 3 2011 2016
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.810 1.000 3 2010 2016
dbSNP: rs3869109
rs3869109 		5 0.851 0.160 6 31216419 intergenic variant A/G;T snv 0.810 1.000 2 2012 2013
dbSNP: rs974819
rs974819 		6 0.807 0.080 11 103789839 intron variant T/A;C snv 0.810 1.000 2 2011 2012
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.800 1.000 13 2008 2016
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.800 1.000 3 2012 2013
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.800 1.000 3 2011 2016
dbSNP: rs6725887
rs6725887
WDR12
4 0.851 0.080 2 202881162 intron variant T/C snv 8.9E-02 0.800 1.000 3 2011 2014
dbSNP: rs944797
rs944797
CDKN2B-AS1
5 0.882 0.120 9 22115287 intron variant T/C;G snv 0.49 0.800 1.000 3 2011 2013
dbSNP: rs9818870
rs9818870
MRAS
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.800 1.000 3 2009 2014
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.800 1.000 2 2011 2016
dbSNP: rs12413409
rs12413409
CNNM2
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.800 1.000 2 2011 2014
dbSNP: rs12449964
rs12449964 		2 1.000 0.040 17 17641390 regulatory region variant C/T snv 0.36 0.800 1.000 2 2011 2014
dbSNP: rs12524865
rs12524865
TARID
1 1.000 0.040 6 133875536 intron variant C/A snv 0.34 0.800 1.000 2 2011 2012
dbSNP: rs12936587
rs12936587 		5 0.882 0.080 17 17640408 regulatory region variant G/A snv 0.38 0.800 1.000 2 2011 2014
dbSNP: rs1412444
rs1412444
LIPA
4 0.851 0.120 10 89243170 intron variant C/T snv 0.37 0.800 1.000 2 2011 2011
dbSNP: rs17114036
rs17114036
PLPP3
5 0.851 0.120 1 56497149 intron variant A/G snv 0.11 0.800 1.000 2 2011 2014
dbSNP: rs17114046
rs17114046
PLPP3
2 0.925 0.040 1 56500678 intron variant A/G snv 0.12 0.800 1.000 2 2011 2011
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.800 1.000 2 2011 2016