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: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs35678986
rs35678986
KRTAP5-4
1 11 1621372 3 prime UTR variant T/G snv 2.4E-02 1.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs1379326
rs1379326
CSMD1
1 8 4760288 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs546433642
rs546433642
KANSL1
4 0.925 0.120 17 46172742 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs6793295
rs6793295
LRRC34
6 0.827 0.240 3 169800667 missense variant T/C;G snv 0.37; 1.8E-04 0.800 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: 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: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1992272
rs1992272
DISP2
1 15 40366769 intron variant T/C snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs2071174
rs2071174
MUC2 ; LOC107987157
1 11 1073712 upstream gene variant T/C snv 0.39 0.700 1.000 1 2013 2013
dbSNP: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2289331
rs2289331
IVD
1 15 40407739 missense variant T/C snv 0.69 0.63 0.700 1.000 1 2013 2013
dbSNP: rs2301160
rs2301160 		1 11 1063767 intergenic variant T/C snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs2525556
rs2525556
AZGP1P1
1 7 99980121 upstream gene variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs2672794
rs2672794 		2 1.000 0.040 11 1219775 intron variant T/C snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs2857476
rs2857476
MUC5B
2 1.000 0.040 11 1259904 intron variant T/C snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs2869967
rs2869967
FAM13A ; LOC105377327
11 0.827 0.120 4 88948181 intron variant T/C snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs3793964
rs3793964
TOLLIP
4 0.882 0.120 11 1280752 intron variant T/C snv 0.66 0.700 1.000 1 2013 2013
dbSNP: rs7215239
rs7215239
LINC02210-CRHR1
3 1.000 0.040 17 45690407 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs7480563
rs7480563
MUC2
1 11 1107741 non coding transcript exon variant T/C snv 0.58 0.56 0.700 1.000 1 2013 2013
dbSNP: rs7942850
rs7942850
LOC107987157
1 11 1068900 intergenic variant T/C snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs8034217
rs8034217
IVD
1 15 40429501 intron variant T/C snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs868903
rs868903
MUC5B
4 0.882 0.120 11 1221460 upstream gene variant T/C snv 0.47 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