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: rs17110757
rs17110757
ACOT11
2 1.000 0.040 1 54584133 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs1920116
rs1920116
LRRC31
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs2236507
rs2236507
RTEL1 ; RTEL1-TNFRSF6B
2 1.000 0.040 20 63691653 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.700 1.000 1 2017 2017
dbSNP: rs2562152
rs2562152
RHBDF1
4 0.882 0.040 16 73898 intron variant A/T snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs4252707
rs4252707
MDM4
2 1.000 0.040 1 204539019 intron variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs59060240
rs59060240
EGFR
4 0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs634537
rs634537
CDKN2B-AS1
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs7107785
rs7107785
MAML2
2 1.000 0.040 11 96014174 intron variant T/C snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs7572263
rs7572263
C2orf80
2 1.000 0.040 2 208186862 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs77633900
rs77633900
ETFA
2 1.000 0.040 15 76246118 intron variant G/C snv 6.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs8079544
rs8079544
TP53
2 1.000 0.040 17 7676734 intron variant C/T snv 7.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs891835
rs891835
CCDC26
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.700 1.000 1 2009 2009
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 2 2015 2017
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: rs12088062
rs12088062 		2 1.000 0.040 1 244811284 intergenic variant C/T snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs12125049
rs12125049
LINC02778 ; LOC105378761
2 1.000 0.040 1 60202030 intergenic variant C/T snv 0.12 0.700 1.000 1 2009 2009
dbSNP: rs1409785
rs1409785 		2 1.000 0.040 1 74782438 intergenic variant G/A snv 0.65 0.700 1.000 1 2009 2009
dbSNP: rs16838813
rs16838813 		2 1.000 0.040 1 4364085 intergenic variant G/A;T snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs2252586
rs2252586 		5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.700 1.000 1 2011 2011
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