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: rs12508222
rs12508222
FAT4
3 0.925 0.080 4 125449492 missense variant G/A;T snv 4.3E-02; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs1567047
rs1567047
FAT4
3 0.925 0.080 4 125451587 missense variant G/A snv 0.27 0.22 0.010 1.000 1 2013 2013
dbSNP: rs2320615
rs2320615
NAF1
3 0.925 0.080 4 163148797 intron variant A/G snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs413812
rs413812
HSP90AA6P
1 1.000 0.080 4 170588298 intron variant T/C snv 0.76 0.700 1.000 1 2011 2011
dbSNP: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs753225272
rs753225272
FAT4
3 0.925 0.080 4 125491730 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2010 2010
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2014 2014
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2012 2013
dbSNP: rs10052657
rs10052657
PDE4D
7 0.807 0.120 5 59111944 intron variant C/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10058728
rs10058728
CSNK1A1
2 1.000 0.080 5 149524529 intron variant A/T snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 1999 1999
dbSNP: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs26279
rs26279
MSH3
9 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 0.010 1.000 1 2015 2015
dbSNP: rs31563
rs31563 		5 0.851 0.160 5 135899917 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs31564
rs31564
IL9
3 0.925 0.080 5 135894564 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs465498
rs465498
CLPTM1L
9 0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs61748181
rs61748181
TERT
10 0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs6898743
rs6898743
GHR
9 0.776 0.160 5 42602390 intron variant C/G snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs7726463
rs7726463 		1 1.000 0.080 5 37954971 intron variant T/C snv 9.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs2231917
rs2231917
FBXO4
1 1.000 0.080 5 41925333 missense variant C/G snv 2.0E-02 1.1E-02 0.700 0