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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2011
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
3 0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs71682980
rs71682980
LINC00596
1 1.000 0.120 14 23855957 intergenic variant A/-;AA;AAA;AAAA;AAAAA;AAAAAAA delins 0.010 1.000 1 2018 2018
dbSNP: rs587782274
rs587782274
ATM ; C11orf65
1 1.000 0.120 11 108312465 missense variant A/C snv 0.700 0
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs6937133
rs6937133
DAAM2
2 0.925 0.120 6 39832238 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs7859384
rs7859384 		6 0.882 0.120 9 79507370 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs132793
rs132793 		7 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
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: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.040 0.750 4 2017 2018
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 < 0.001 1 2007 2007
dbSNP: rs718314
rs718314
LOC105369705
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.040 0.750 4 2012 2016
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: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.030 1.000 3 2011 2016
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2014 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2014 2017
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: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2014 2014
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