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: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2012 2012
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs701848
rs701848
PTEN
10 0.807 0.280 10 87966988 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2012 2012
dbSNP: rs9679290
rs9679290
EPAS1
2 0.925 0.120 2 46330505 intron variant G/C snv 0.41 0.010 1.000 1 2012 2012
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: rs12105521
rs12105521
ZEB2
1 1.000 0.120 2 144450769 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1332018
rs1332018
GSTM3 ; GSTM5
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013
dbSNP: rs13401103
rs13401103
ZEB2
1 1.000 0.120 2 144441056 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs35252396
rs35252396
PVT1
1 1.000 0.120 8 127877125 intron variant AC/CG mnv 0.700 1.000 1 2013 2013
dbSNP: rs375129361
rs375129361
BAP1
2 0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs6470588
rs6470588
PVT1
1 1.000 0.120 8 127877125 intron variant A/C snv 0.53 0.800 1.000 1 2013 2013
dbSNP: rs6470589
rs6470589
PVT1
1 1.000 0.120 8 127877126 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs72858474
rs72858474
ZEB2
1 1.000 0.120 2 144441322 intron variant G/A snv 6.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2013 2013
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs7765284
rs7765284 		1 1.000 0.120 6 85068104 intergenic variant C/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs869025621
rs869025621
VHL
4 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11762213
rs11762213
MET
2 0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02 0.020 1.000 2 2013 2014
dbSNP: rs121913346
rs121913346
VHL
3 0.925 0.240 3 10149796 missense variant T/A;C snv 0.700 1.000 2 2002 2014
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