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: rs28673968
rs28673968
LOC105377329
1 1.000 0.040 4 89655739 intron variant T/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs62025270
rs62025270
LOC101929679
1 1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17 0.710 1.000 1 2017 2017
dbSNP: rs397728201
rs397728201
SFTPA1
4 0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121917738
rs121917738
SFTPA2
5 0.827 0.080 10 79557363 missense variant A/G snv 0.800 1.000 1 2009 2009
dbSNP: rs121917737
rs121917737
SFTPA2
5 0.827 0.080 10 79557264 missense variant C/A snv 0.800 1.000 1 2009 2009
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.730 1.000 3 2016 2019
dbSNP: rs2744371
rs2744371
DSP
2 0.925 0.080 6 7553941 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs201540674
rs201540674
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
4 0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05 0.700 1.000 1 2015 2015
dbSNP: rs776525427
rs776525427
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63695387 stop gained C/G;T snv 1.0E-05 7.0E-06 0.700 0
dbSNP: rs146221660
rs146221660
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.040 20 63693248 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs398123017
rs398123017
RTEL1 ; RTEL1-TNFRSF6B
4 0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs776744306
rs776744306
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225053
rs863225053
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.040 20 63690162 inframe deletion ATGTCATCC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs863225130
rs863225130
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63688161 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs748223349
rs748223349
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63688001 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225129
rs863225129
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.160 20 63687936 splice acceptor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs869312855
rs869312855
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63678184 splice donor variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1555899640
rs1555899640
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63661935 frameshift variant TC/- delins 0.700 0
dbSNP: rs8182352
rs8182352 		5 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs73606754
rs73606754
TTYH1
1 1.000 0.040 19 54420809 splice region variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17690703
rs17690703
MAPT-AS1
4 0.882 0.160 17 45847931 intron variant C/T snv 0.18 0.800 1.000 1 2013 2013