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: 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: rs10484326
rs10484326
DSP
1 6 7558085 intron variant T/C snv 0.20 0.21 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: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 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: rs11070270
rs11070270
IVD
1 15 40416223 intron variant A/G snv 0.68 0.61 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: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs117603931
rs117603931
ABCA3
4 0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs11858744
rs11858744 		1 15 85339833 regulatory region variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.040 1.000 4 2004 2019