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: rs10740055
rs10740055
ARID5B
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs138817062
rs138817062
PML
4 0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2285053
rs2285053
MMP2
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs3116496
rs3116496
CD28
11 0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs6964823
rs6964823
IKZF1
3 0.925 0.040 7 50392398 intron variant G/A snv 0.45 0.010 1.000 1 2019 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 0.010 1.000 1 2018 2018
dbSNP: rs139834892
rs139834892
XRCC1
3 0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs2308950
rs2308950
CASP9
3 0.882 0.040 1 15507011 missense variant C/G;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs34009635
rs34009635
MMP8
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs35866072
rs35866072
MMP8
17 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs754944509
rs754944509
CNTNAP1
4 0.851 0.080 17 42690793 missense variant C/T snv 4.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs766274360
rs766274360
PRSS27
3 0.882 0.040 16 2713697 missense variant G/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs10251201
rs10251201
UMAD1
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10405859
rs10405859
MARK4 ; PPP1R37
3 0.882 0.080 19 45099523 intron variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs10821936
rs10821936
ARID5B
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1188975135
rs1188975135
APOBEC3C ; APOBEC3F
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs753000469
rs753000469
FLVCR1 ; FLVCR1-DT
4 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs9318227
rs9318227
KLF12
3 0.882 0.080 13 73926833 intron variant T/A;C snv 0.010 1.000 1 2017 2017