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: rs1242640031
rs1242640031
CRK
1 17 1456106 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs947996134
rs947996134
CCDC8
1 19 46412799 missense variant G/C snv 1.2E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs1018379423
rs1018379423
EPHB2
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs3743073
rs3743073
CHRNA3
11 0.807 0.120 15 78617197 intron variant G/T snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs588765
rs588765
CHRNA5
6 0.827 0.200 15 78573083 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs775514340
rs775514340
CILK1
5 0.882 0.080 6 53041202 missense variant T/A;C snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.060 1.000 6 2012 2019
dbSNP: rs1052559
rs1052559
ERCC2 ; KLC3
2 1.000 0.040 19 45351661 stop gained T/A;G snv 0.010 1.000 1 2005 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
dbSNP: rs759404153
rs759404153
EPHB2
2 1.000 0.040 1 22910452 missense variant T/A;G snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs112295309
rs112295309
SCRIB ; MIR937
3 1.000 0.080 8 143813896 missense variant T/C;G snv 6.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs8021944
rs8021944
ESR2 ; SYNE2
1 14 64212580 intron variant T/G snv 5.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.060 1.000 6 2012 2019