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 0.030 1.000 3 2000 2006
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.030 1.000 3 2000 2006
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.030 1.000 3 2000 2006
dbSNP: rs13332514
rs13332514
ABCA3
2 0.925 0.080 16 2317335 synonymous variant G/A snv 0.17 0.12 0.020 1.000 2 2008 2016
dbSNP: rs149989682
rs149989682
ABCA3
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.020 1.000 2 2008 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2013 2014
dbSNP: rs1923537
rs1923537 		1 1.000 0.080 10 79935452 intron variant A/G snv 0.37 0.020 1.000 2 2009 2012
dbSNP: rs10178332
rs10178332
ROCK2
2 0.925 0.120 2 11268891 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs1124
rs1124
BMP1 ; SFTPC
3 0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2017 2017
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 2016 2016
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs121918563
rs121918563
PRPH2
6 0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 1997 1997
dbSNP: rs146709251
rs146709251
ABCA3
3 0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs170447
rs170447
ABCA3
1 1.000 0.080 16 2299370 intron variant T/C snv 0.51 0.45 0.010 < 0.001 1 2012 2012
dbSNP: rs17135889
rs17135889
ABCA3
2 0.925 0.080 16 2337259 intron variant G/A snv 0.11 0.010 1.000 1 2016 2016
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: rs1966265
rs1966265
FGFR4
8 0.827 0.160 5 177089630 missense variant G/A;T snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2271255
rs2271255
ROCK1
1 1.000 0.080 18 21044113 missense variant T/C snv 3.6E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2682826
rs2682826
NOS1
11 0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25 0.010 1.000 1 2014 2014
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: rs313909
rs313909
ABCA3
1 1.000 0.080 16 2287992 intron variant G/A;C snv 0.42; 4.3E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs323043
rs323043
ABCA3
1 1.000 0.080 16 2298527 synonymous variant G/A;C;T snv 8.0E-06; 0.14; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs35768389
rs35768389
ROCK2
2 0.925 0.160 2 11214974 missense variant T/A snv 3.5E-04 3.6E-04 0.010 1.000 1 2017 2017