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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2006 2009
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: rs801114
rs801114 		5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 2 2008 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2006 2009
dbSNP: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs104894040
rs104894040
SHH
4 0.882 0.160 7 155806509 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs104894049
rs104894049
SHH
3 0.925 0.120 7 155806527 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
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: rs12210050
rs12210050
LOC105374875
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.710 1.000 1 2011 2011
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2014 2014
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: 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: 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: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.700 1.000 1 2014 2014
dbSNP: rs2303425
rs2303425
MSH2
8 0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 0.010 < 0.001 1 2018 2018
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: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs4796793
rs4796793
STAT3
16 0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 0.010 1.000 1 2019 2019