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: rs1042689672
rs1042689672
SFTPA2
2 0.925 0.080 10 79557504 missense variant A/G snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2000 2000
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.010 1.000 1 2007 2007
dbSNP: rs7096206
rs7096206
MBL2
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2009 2009
dbSNP: rs1320896171
rs1320896171
PAFAH1B1
3 0.882 0.120 17 2680294 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1805018
rs1805018
PLA2G7
6 0.827 0.200 6 46711566 missense variant A/G snv 6.8E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs2298991
rs2298991
EGF
1 1.000 0.040 4 109970856 intron variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs2515475
rs2515475
ANGPT2 ; MCPH1
1 1.000 0.040 8 6530918 intron variant C/T snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs4698803
rs4698803
EGF
1 1.000 0.040 4 109993271 missense variant A/G;T snv 0.85 0.010 1.000 1 2009 2009
dbSNP: rs533117495
rs533117495
ABCB1
5 0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs6533485
rs6533485
EGF
1 1.000 0.040 4 110006407 intron variant G/C snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs761495176
rs761495176
NR3C1
3 0.882 0.080 5 143400263 missense variant T/C snv 1.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs7692976
rs7692976
EGF
2 1.000 0.040 4 109990411 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs782230926
rs782230926
HAP1
1 1.000 0.040 17 41734538 missense variant G/T snv 8.4E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1190286
rs1190286
POPDC3 ; BVES-AS1
1 1.000 0.040 6 105163071 intron variant C/T snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs149989682
rs149989682
ABCA3
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs28451617
rs28451617
CYP3A7 ; ZSCAN25 ; CYP3A7-CYP3A51P
4 0.851 0.120 7 99735142 5 prime UTR variant C/T snv 9.2E-03 3.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2012 2012
dbSNP: rs61330082
rs61330082
NAMPT
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs11137480
rs11137480
S1PR3 ; C9orf47
3 0.882 0.120 9 88989662 upstream gene variant G/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs7022797
rs7022797
S1PR3 ; C9orf47
3 0.882 0.120 9 88989548 upstream gene variant T/G snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs2664581
rs2664581
PI3
3 0.882 0.120 20 45175881 missense variant A/C snv 0.16 0.16 0.020 1.000 2 2009 2014