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: rs718314
rs718314
LOC105369705
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.840 0.833 6 2012 2019
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: rs11894252
rs11894252
EPAS1
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.810 1.000 4 2011 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.030 1.000 3 2016 2019
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.030 1.000 3 2012 2015
dbSNP: rs4765623
rs4765623
SCARB1
2 0.925 0.120 12 124836304 intron variant C/T snv 0.38 0.810 1.000 3 2011 2017
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.030 0.667 3 2015 2019
dbSNP: rs12105918
rs12105918
ZEB2
1 1.000 0.120 2 144450626 intron variant T/C snv 6.1E-02 0.800 1.000 2 2013 2017
dbSNP: rs2121266
rs2121266
EPAS1
1 1.000 0.120 2 46308785 intron variant C/A snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs4903064
rs4903064
DPF3
2 0.925 0.120 14 72812712 intron variant T/C snv 0.23 0.710 1.000 2 2017 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2014 2014
dbSNP: rs5751129
rs5751129
XRCC6 ; DESI1
14 0.752 0.320 22 41619761 intron variant C/T snv 0.69 0.020 1.000 2 2012 2015
dbSNP: rs72858496
rs72858496
ZEB2
1 1.000 0.120 2 144452349 intron variant C/T snv 5.9E-02 0.800 1.000 2 2013 2015
dbSNP: rs10054504
rs10054504
PDZD2
1 1.000 0.120 5 32000377 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs10211665
rs10211665
EPAS1
1 1.000 0.120 2 46298957 intron variant T/C snv 0.58 0.700 1.000 1 2011 2011
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: rs10771279
rs10771279
ITPR2
2 0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 0.010 < 0.001 1 2014 2014
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: 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: rs11637556
rs11637556
MAP2K1
1 1.000 0.120 15 66436613 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11684885
rs11684885
EPAS1
1 1.000 0.120 2 46306413 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs11689011
rs11689011
EPAS1
2 1.000 0.120 2 46314037 intron variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs12105521
rs12105521
ZEB2
1 1.000 0.120 2 144450769 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1259293
rs1259293
FSTL1
2 0.925 0.120 3 120421014 intron variant T/C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs12617313
rs12617313
EPAS1
2 0.925 0.120 2 46332637 intron variant A/G;T snv 0.010 1.000 1 2012 2012