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: rs121913492
rs121913492
GNAQ
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1308088661
rs1308088661
ERBB2
2 17 39727880 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1347591
rs1347591
NUP93
2 1.000 0.080 16 56834788 intron variant A/G snv 0.47 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1370041903
rs1370041903
PRKN
3 0.925 0.120 6 161350185 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs147574894
rs147574894
NFKB1 ; LOC105377347
4 0.925 0.080 4 102600911 missense variant A/G snv 9.6E-05 3.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs148626207
rs148626207
NFKB1 ; LOC105377347
1 4 102612593 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2055979
rs2055979
IL21 ; IL21-AS1
6 0.827 0.320 4 122619586 intron variant C/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2221903
rs2221903
IL21 ; IL21-AS1
12 0.752 0.360 4 122617757 intron variant C/T snv 0.77 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: rs2286742
rs2286742
HABP2
2 1.000 0.080 10 113580733 intron variant G/A;C snv 0.57; 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2019 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs33954691
rs33954691
TERT
2 1.000 0.080 5 1255405 synonymous variant G/A snv 0.13 9.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs353630
rs353630
CD44
2 1.000 0.080 11 35166644 intron variant G/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs3740530
rs3740530
HABP2
2 1.000 0.080 10 113574365 synonymous variant C/T snv 0.63 0.55 0.010 1.000 1 2019 2019
dbSNP: rs3774937
rs3774937
NFKB1
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2019 2019
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs4461062
rs4461062
NUP93
2 1.000 0.080 16 56830706 intron variant C/T snv 0.48 0.48 0.010 1.000 1 2019 2019
dbSNP: rs6024836
rs6024836
AURKA ; FAM210B
7 0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs62054619
rs62054619
GAS8-AS1 ; GAS8
2 1.000 0.080 16 90029890 non coding transcript exon variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.010 1.000 1 2019 2019