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: rs10054203
rs10054203
TERT
3 0.882 0.080 5 1279849 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1014264982
rs1014264982
HMG20B
3 0.882 0.080 19 3577038 missense variant G/A;C snv 6.8E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs10187911
rs10187911
NRXN1
3 0.882 0.080 2 50420809 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs10244817
rs10244817
POT1
3 0.882 0.080 7 124827416 intron variant T/C snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs10254120
rs10254120
PMS2
5 0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10412613
rs10412613
PPP2R1A
3 0.882 0.080 19 52209575 intron variant G/A snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1043973338
rs1043973338
IL1B
3 0.882 0.080 2 112830483 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1046175
rs1046175
PAOX
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs10487372
rs10487372
CFTR ; CFTR-AS1
3 0.882 0.080 7 117560845 intron variant C/T snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs104886026
rs104886026
EGFR
4 0.851 0.080 7 55200333 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1049337
rs1049337
CAV1
3 0.882 0.080 7 116560533 3 prime UTR variant C/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs10508266
rs10508266 		3 0.882 0.080 10 3797822 intergenic variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs10512948
rs10512948 		3 0.882 0.080 5 8233238 intron variant T/C snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs10519203
rs10519203
HYKK
8 0.851 0.080 15 78521704 intron variant G/A snv 0.67 0.010 1.000 1 2010 2010
dbSNP: rs10519717
rs10519717
LOC105377462
4 0.851 0.080 4 144559188 intron variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1053566
rs1053566
MAP2K7
3 0.882 0.080 19 7911079 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519729
rs1057519729
MAP2K1
6 0.827 0.080 15 66435113 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519784
rs1057519784
ALK
7 0.827 0.080 2 29220765 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
4 0.882 0.080 17 39724772 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519984
rs1057519984
TP53
3 0.882 0.080 17 7673777 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1060501327
rs1060501327
MUTYH
4 0.851 0.080 1 45332251 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1060503291
rs1060503291
APC
3 0.882 0.080 5 112835135 missense variant C/T snv 0.010 1.000 1 2004 2004