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: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs6593803
rs6593803
LOC102723321 ; LOC105371230
2 1.000 0.120 1 147733635 intergenic variant C/T snv 0.22 0.700 1.000 1 2017 2017
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: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2010 2010
dbSNP: rs749885909
rs749885909
RMDN2 ; RMDN2-AS1
1 2 38004143 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7572733
rs7572733
PLCL1
4 0.925 0.120 2 198065082 intron variant C/T snv 0.43 0.010 1.000 1 2016 2016
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: 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
dbSNP: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs1317082
rs1317082
MYNN
6 0.882 0.200 3 169779797 non coding transcript exon variant A/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs1920120
rs1920120
MYNN
1 3 169784392 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1997392
rs1997392 		1 3 169791864 upstream gene variant C/T snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs2141595
rs2141595
MYNN
1 3 169785644 intron variant C/T snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs3821383
rs3821383
MYNN
2 1.000 0.160 3 169772158 upstream gene variant A/C;G;T 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: rs7625734
rs7625734 		1 3 169791127 upstream gene variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs7633750
rs7633750 		2 1.000 0.160 3 169791456 upstream gene variant G/A snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs9831661
rs9831661
LRRC34
1 3 169810735 intron variant G/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs9860874
rs9860874
ACTRT3
1 3 169768483 intron variant C/A snv 0.33 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: rs2045517
rs2045517
FAM13A ; LOC105377327
5 4 88949813 intron variant C/T snv 0.49 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: 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