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: rs35705950
rs35705950 		14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.050 1.000 5 2013 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.810 1.000 2 2013 2014
dbSNP: rs7934606
rs7934606
MUC2
2 1.000 0.040 11 1100037 intron variant C/G;T snv 0.810 1.000 2 2013 2016
dbSNP: rs1001528
rs1001528
IVD
1 15 40421575 intron variant A/G snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs1007177
rs1007177
DISP2
1 15 40359637 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1033198
rs1033198 		1 11 1325572 intergenic variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs10751635
rs10751635 		1 11 1062990 intergenic variant A/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs10758593
rs10758593
GLIS3
8 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs10794278
rs10794278 		1 11 1061718 intergenic variant G/T snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10794279
rs10794279 		1 11 1061781 intergenic variant C/T snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10794280
rs10794280 		1 11 1062867 intergenic variant C/T snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10794284
rs10794284 		1 11 1067011 intergenic variant G/A snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs10902073
rs10902073 		1 11 1060934 TF binding site variant C/A snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs10902088
rs10902088
MUC2
2 1.000 0.040 11 1090036 non coding transcript exon variant T/C snv 0.73 0.700 1.000 1 2013 2013
dbSNP: rs10936601
rs10936601
LRRC34
2 1.000 0.160 3 169810661 intron variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs11023590
rs11023590
LINC02689
1 11 1354730 intron variant C/T snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs11070272
rs11070272
IVD
1 15 40433064 intron variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs11191865
rs11191865
STN1
3 0.925 0.160 10 103913084 intron variant G/A snv 0.44 0.800 1.000 1 2013 2013
dbSNP: rs11858744
rs11858744 		1 15 85339833 regulatory region variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs121917836
rs121917836
SFTPC
4 0.882 0.040 8 22162727 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs12438724
rs12438724
ADAMTS7P4
1 15 85282062 intron variant C/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs12630450
rs12630450 		2 1.000 0.160 3 169762416 downstream gene variant A/G snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2013 2013