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: rs7396187
rs7396187
DKK3
2 0.925 0.120 11 11967604 intron variant C/G snv 0.84 0.010 1.000 1 2009 2009
dbSNP: rs748964
rs748964 		2 0.925 0.120 9 134442243 downstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2010 2010
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: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 < 0.001 1 2010 2010
dbSNP: rs7105934
rs7105934
LOC102724265
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.830 1.000 7 2011 2019
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.050 0.800 5 2011 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: 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: 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: 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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
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: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2011 2011
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: rs17034950
rs17034950
EPAS1
1 1.000 0.120 2 46311655 intron variant G/A snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1800435
rs1800435
ALAD
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1867784
rs1867784
EPAS1
1 1.000 0.120 2 46307081 intron variant T/C snv 0.40 0.700 1.000 1 2011 2011
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: rs1867787
rs1867787
EPAS1
1 1.000 0.120 2 46298252 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2034327
rs2034327
EPAS1
1 1.000 0.120 2 46321901 intron variant G/C snv 0.59 0.700 1.000 1 2011 2011