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: rs74917072
rs74917072
UBE2F ; UBE2F-SCLY
3 0.882 0.120 2 238022053 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7572644
rs7572644
BABAM2
2 0.925 0.120 2 28097166 intron variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs7643459
rs7643459
LMCD1-AS1 ; LOC101927394
2 0.925 0.120 3 7963141 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7748275
rs7748275 		3 0.882 0.120 6 3580855 downstream gene variant T/A snv 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs79722116
rs79722116
FANCC ; AOPEP ; LOC107987102
3 0.882 0.120 9 95107192 synonymous variant C/T snv 4.6E-04 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs80356897
rs80356897
BRCA1
5 0.827 0.160 17 43099853 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.020 1.000 2 2018 2019
dbSNP: rs10788679
rs10788679
ARHGEF10L
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1136905
rs1136905
HLA-DRB3 ; HLA-DRB5
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1801200
rs1801200
ERBB2
7 0.790 0.200 17 39723335 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1836724
rs1836724
ERBB4
6 0.807 0.240 2 211380227 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1955513
rs1955513
AKAP6
2 0.925 0.120 14 32706736 intron variant T/G snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2256787
rs2256787
ARHGEF10L
2 0.925 0.120 1 17566321 intron variant A/C snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs4143815
rs4143815
CD274
20 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs4758680
rs4758680
LRRC43
9 0.763 0.320 12 122170805 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs56318008
rs56318008
WNT4 ; LOC105376845
3 0.925 0.120 1 22143914 5 prime UTR variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs76032516
rs76032516
MAML2
2 0.925 0.120 11 96097550 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs771386507
rs771386507
HLA-B ; MIR6891
6 0.882 0.120 6 31355479 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018