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: 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: rs9582036
rs9582036
FLT1
8 0.776 0.280 13 28311271 intron variant C/A snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs9420907
rs9420907
STN1
7 0.790 0.320 10 103916707 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs937475913
rs937475913
PRKDC
7 0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs9332
rs9332
MTRR
2 0.925 0.200 5 7900599 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs879255658
rs879255658
FLCN
3 0.882 0.160 17 17228135 start lost C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2011
dbSNP: rs876658517
rs876658517
ATM ; C11orf65
1 1.000 0.120 11 108327735 missense variant A/G;T snv 0.700 0
dbSNP: rs869025668
rs869025668
VHL
3 0.882 0.240 3 10149964 stop lost G/T snv 0.010 1.000 1 2011 2011
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: rs864321679
rs864321679
PBRM1 ; SMIM4
1 1.000 0.120 3 52563364 frameshift variant CACTATCT/- delins 0.700 0
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2016 2016
dbSNP: rs8106822
rs8106822
LOC107985311
2 0.925 0.120 19 31373516 intron variant G/A snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs8101626
rs8101626
DNMT1
1 1.000 0.120 19 10135353 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs8081059
rs8081059
SLC39A11
2 0.925 0.120 17 73072580 intron variant C/A snv 0.83 0.010 1.000 1 2015 2015
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2018 2018
dbSNP: rs78683075
rs78683075
FLCN
1 1.000 0.120 17 17222565 missense variant G/A snv 2.6E-04 2.4E-04 0.700 0
dbSNP: rs7859384
rs7859384 		6 0.882 0.120 9 79507370 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs779805
rs779805
VHL
4 0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs776399733
rs776399733
VHL
3 0.882 0.120 3 10141965 missense variant C/A;T snv 6.5E-06 0.010 1.000 1 2015 2015
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: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2012
dbSNP: rs758175953
rs758175953
FLCN
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0