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: rs4727443
rs4727443
LOC105375423
1 7 99995723 upstream gene variant C/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs6974373
rs6974373 		1 7 99993270 upstream gene variant C/A;G snv 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: rs2283017
rs2283017
AZGP1
1 7 99977135 intron variant A/G snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1903003
rs1903003
FAM13A
4 0.925 0.080 4 88965146 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2904259
rs2904259
FAM13A
5 4 88964563 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs7671167
rs7671167
FAM13A
7 0.925 0.040 4 88962828 intron variant C/T snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs2045517
rs2045517
FAM13A ; LOC105377327
5 4 88949813 intron variant C/T snv 0.49 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: rs2869966
rs2869966
FAM13A ; LOC105377327
9 1.000 0.040 4 88947927 intron variant C/T snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs2609255
rs2609255
FAM13A
4 0.882 0.080 4 88890044 intron variant G/T snv 0.73 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: rs16941432
rs16941432
AKAP13
1 15 85559945 intron variant A/G snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs2169877
rs2169877
AKAP13
1 15 85542571 intron variant G/A snv 0.70 0.700 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: rs12438724
rs12438724
ADAMTS7P4
1 15 85282062 intron variant C/T snv 0.41 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: rs3778337
rs3778337
DSP
1 6 7565652 non coding transcript exon variant G/A snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs1358904
rs1358904
DSP
1 6 7564228 intron variant C/T snv 0.31 0.700 1.000 1 2013 2013
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: rs10484326
rs10484326
DSP
1 6 7558085 intron variant T/C snv 0.20 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2441727
rs2441727
CTNNA3
1 10 66465128 intron variant A/G snv 0.21 0.800 1.000 1 2013 2013
dbSNP: rs7731626
rs7731626
ANKRD55
16 0.716 0.240 5 56148856 intron variant G/A snv 0.30 0.010 1.000 1 2017 2017
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: rs373129709
rs373129709
EGFR ; LOC105375284
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2014 2014