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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 6 2009 2017
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.030 1.000 3 2011 2019
dbSNP: rs7538876
rs7538876
PADI6
6 0.807 0.120 1 17395867 intron variant G/A snv 0.37 0.700 1.000 2 2008 2014
dbSNP: rs12202284
rs12202284
LOC105374875
3 0.925 0.080 6 471136 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12951053
rs12951053
TP53
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs157935
rs157935
LINC-PINT ; LINC00513
4 0.851 0.040 7 130900794 intron variant T/G snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs16917546
rs16917546
ZNF365 ; LOC105378327
6 0.851 0.040 10 62637778 intron variant T/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs214782
rs214782
TGM3 ; LOC105372503
4 0.851 0.040 20 2301324 intron variant G/A snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs2293152
rs2293152
STAT3
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs2805831
rs2805831
PTCSC2
2 1.000 0.040 9 97704354 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs59586681
rs59586681 		4 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs7006527
rs7006527
RGS22
4 0.851 0.040 8 100012277 intron variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs79824801
rs79824801
PAN2 ; IL23A
2 1.000 0.040 12 56334353 intron variant T/C snv 4.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs142310826
rs142310826 		3 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 1999 2005
dbSNP: rs1356844630
rs1356844630
GLI1
5 0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs775248597
rs775248597
ATM
5 0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 0.700 0
dbSNP: rs786203714
rs786203714
PALB2
4 0.925 0.200 16 23635095 stop gained A/T snv 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.333 3 2004 2015
dbSNP: rs17710891
rs17710891
SMO
2 0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 0.700 1.000 3 2009 2015
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.730 1.000 3 2009 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2006 2009
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.020 1.000 2 2008 2011
dbSNP: rs2228479
rs2228479
MC1R
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.020 0.500 2 1999 2006