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: rs1555876140
rs1555876140
SMARCB1
1 22 23793671 frameshift variant -/C delins 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.060 1.000 6 2014 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2014 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 5 2009 2014
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.800 1.000 5 2009 2014
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 2 2015 2017
dbSNP: rs12803321
rs12803321
PHLDB1
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 2 2015 2017
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.700 1.000 2 2011 2015
dbSNP: rs4295627
rs4295627
CCDC26
11 0.763 0.200 8 129673211 intron variant T/G snv 0.17 0.700 1.000 2 2009 2011
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.700 1.000 2 2009 2012
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.700 1.000 2 2009 2011
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.700 1.000 2 2015 2017
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 2 2015 2017
dbSNP: rs10131032
rs10131032
AKAP6
2 1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs10852606
rs10852606
HEATR3
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10924303
rs10924303
KIF26B ; LOC105373265
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs10924690
rs10924690
SMYD3
2 1.000 0.040 1 246320481 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs11163687
rs11163687
LOC107985037
2 1.000 0.040 1 83199436 intergenic variant A/G snv 9.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs11166389
rs11166389
SLC35A3 ; RNU6-1318P
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs111696067
rs111696067
GOLGA3
2 1.000 0.040 12 132799954 intron variant T/C snv 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs11233250
rs11233250
MIR4300HG
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs11583706
rs11583706
LOC105373220
2 1.000 0.040 1 238358337 intron variant G/T snv 0.17 0.700 1.000 1 2009 2009