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: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.830 1.000 5 2011 2019
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.030 1.000 3 2012 2015
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.030 1.000 3 2014 2018
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs10484683
rs10484683
SAMD5
1 1.000 0.120 6 147830941 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1057519914
rs1057519914
MTOR
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519983
rs1057519983
TP53
16 0.724 0.360 17 7673797 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11125068
rs11125068
EPAS1
1 1.000 0.120 2 46300677 intron variant A/G snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1154454
rs1154454
ADH7
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs1312268347
rs1312268347
SARDH
4 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1416313401
rs1416313401
SYBU
5 0.827 0.160 8 109578004 missense variant A/G snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2006 2006
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1867785
rs1867785
EPAS1
1 1.000 0.120 2 46307199 intron variant A/G snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs1982809
rs1982809
BTLA ; LOC112268446
3 0.882 0.200 3 112463893 downstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs2044456
rs2044456
EPAS1
1 1.000 0.120 2 46319177 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs2243289
rs2243289
IL4 ; LOC105379176
3 0.882 0.240 5 132682440 intron variant A/G snv 0.26 0.23 0.010 1.000 1 2017 2017
dbSNP: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs2504106
rs2504106
DAAM2
2 0.925 0.120 6 39854343 intron variant A/G snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs3021097
rs3021097
IL10 ; IL19
10 0.752 0.440 1 206773289 5 prime UTR variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs6466135
rs6466135 		2 0.925 0.120 7 106861053 upstream gene variant A/G snv 0.71 0.010 1.000 1 2018 2018