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: rs16826658
rs16826658
LOC105376850
1 1.000 0.040 1 22159378 downstream gene variant T/G snv 0.32 0.750 1.000 6 2010 2020
dbSNP: rs13394619
rs13394619
GREB1
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs1537377
rs1537377 		1 1.000 0.040 9 22169701 regulatory region variant T/C snv 0.44 0.810 1.000 3 2012 2017
dbSNP: rs10965235
rs10965235
CDKN2B-AS1
1 1.000 0.040 9 22115106 intron variant C/A snv 0.15 0.820 1.000 2 2010 2014
dbSNP: rs11674184
rs11674184
GREB1
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 2 2017 2019
dbSNP: rs6542095
rs6542095 		1 1.000 0.040 2 112771606 downstream gene variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs6907340
rs6907340
LOC100506885
1 1.000 0.040 6 19803537 non coding transcript exon variant C/T snv 0.47 0.800 1.000 2 2012 2013
dbSNP: rs7739264
rs7739264
LOC100506885
1 1.000 0.040 6 19785357 intron variant C/G;T snv 0.810 1.000 2 2012 2015
dbSNP: rs10129516
rs10129516
LOC105370531
1 1.000 0.040 14 63133372 intron variant T/A;C snv 0.710 < 0.001 1 2017 2017
dbSNP: rs10131751
rs10131751 		1 1.000 0.040 14 28212010 intergenic variant C/A snv 9.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs10167914
rs10167914 		1 1.000 0.040 2 112805784 TF binding site variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs10282436
rs10282436
LOC100506236
1 1.000 0.040 7 25833490 upstream gene variant G/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10419023
rs10419023
GRIN2D
1 1.000 0.040 19 48427965 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs10508881
rs10508881 		1 1.000 0.040 10 44046117 regulatory region variant A/G snv 0.50 0.800 1.000 1 2013 2013
dbSNP: rs1065780
rs1065780
IGFBP1
1 1.000 0.040 7 45888078 upstream gene variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs10777670
rs10777670
FGD6
1 1.000 0.040 12 95181055 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs10794288
rs10794288
MUC2
1 1.000 0.040 11 1086825 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10859856
rs10859856
VEZT
1 1.000 0.040 12 95237500 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs10975519
rs10975519
IL33 ; LOC107987046
1 1.000 0.040 9 6253571 synonymous variant C/T snv 0.38 0.35 0.800 1.000 1 2013 2013
dbSNP: rs1104760
rs1104760
MUC4
1 1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs11085835
rs11085835
CACNA1A
1 1.000 0.040 19 13221196 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11132055
rs11132055
LOC107986205
1 1.000 0.040 4 181401652 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11245954
rs11245954
MUC2
1 1.000 0.040 11 1107170 non coding transcript exon variant A/G snv 6.7E-02 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs113850637
rs113850637 		1 1.000 0.040 3 104131556 intergenic variant C/T snv 0.14 0.700 1.000 1 2017 2017