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: rs578776
rs578776
CHRNA3
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.040 1.000 4 2010 2020
dbSNP: rs34424986
rs34424986
PRKN
10 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.720 0.500 2 2015 2020
dbSNP: rs1044396
rs1044396
CHRNA4
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs139600787
rs139600787
PRKN
3 0.882 0.080 6 161785882 missense variant T/C snv 1.6E-05 4.2E-05 0.010 < 0.001 1 2020 2020
dbSNP: rs2229959
rs2229959
CHRNA4
3 0.882 0.080 20 63350202 synonymous variant C/A;T snv 0.84; 1.3E-05 0.010 1.000 1 2020 2020
dbSNP: rs2239611
rs2239611
ST6GAL1
3 0.882 0.080 3 187075914 3 prime UTR variant G/A snv 1.5E-02 0.010 1.000 1 2020 2020
dbSNP: rs2284749
rs2284749
ST6GAL1
3 0.882 0.080 3 187076315 3 prime UTR variant G/A snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs483352697
rs483352697
TP53
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs756402191
rs756402191
PLAU ; C10orf55
3 0.882 0.080 10 73913605 missense variant G/A;T snv 1.2E-04; 4.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs776983107
rs776983107
TFEB
3 0.882 0.080 6 41687764 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs778009684
rs778009684
PINK1 ; PINK1-AS
3 0.882 0.080 1 20644539 missense variant C/T snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2020 2020
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.981 103 2005 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.921 38 2003 2019
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 0.968 31 2006 2019
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 0.968 31 2006 2019
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 0.968 31 2006 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.967 30 1999 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.800 0.963 27 2003 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.826 23 2001 2019
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.100 0.636 22 2004 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.100 0.813 16 2004 2019
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.800 0.933 15 2010 2019
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.100 0.900 10 2001 2019
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.880 1.000 8 2011 2019