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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 1.000 5 2002 2013
dbSNP: rs1008438
rs1008438
HSPA1A ; HSPA1L
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.020 1.000 2 2009 2015
dbSNP: rs1042718
rs1042718
ADRB2
3 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 0.020 1.000 2 2010 2017
dbSNP: rs10052957
rs10052957
NR3C1
4 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs1043618
rs1043618
HSPA1A ; HSPA1L
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1061581
rs1061581
HSPA1A ; HSPA1L
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs11896604
rs11896604
ACYP2
8 0.776 0.200 2 54252062 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12615793
rs12615793
ACYP2
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs130293
rs130293
TIMP3 ; SYN3
1 1.000 0.040 22 32825953 intron variant G/A snv 0.92 0.010 1.000 1 2013 2013
dbSNP: rs157928
rs157928
LINC-PINT ; LINC00513
1 1.000 0.040 7 130896599 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs17045754
rs17045754
ACYP2 ; LOC105374610
7 0.790 0.280 2 54269620 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1962430
rs1962430
LINC00599
1 1.000 0.040 8 9902110 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1965708
rs1965708
SFTPA2
6 0.851 0.200 10 79557289 missense variant G/T snv 0.22 0.25 0.010 1.000 1 2015 2015
dbSNP: rs199983
rs199983 		1 1.000 0.040 6 104412396 intergenic variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs2070951
rs2070951
NR3C2
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 0.010 1.000 1 2018 2018
dbSNP: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2227956
rs2227956
HSPA1L
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.010 1.000 1 2009 2009
dbSNP: rs2272026
rs2272026
LINC00599
1 1.000 0.040 8 9900090 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2297441
rs2297441
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
6 0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2918417
rs2918417
NR3C1
1 1.000 0.040 5 143346605 intron variant C/T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs33388
rs33388
NR3C1
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2019 2019