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: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.020 1.000 2 2017 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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 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: 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: 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: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 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: 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
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.750 4 2013 2017
dbSNP: rs2072590
rs2072590
HAGLR ; HAGLROS
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.720 1.000 4 2010 2017
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs1444192401
rs1444192401
KRT7
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs2228026
rs2228026
TEP1
3 0.882 0.120 14 20395890 synonymous variant A/G snv 4.7E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2017 2017
dbSNP: rs540432391
rs540432391
CGB5
5 0.882 0.120 19 49043993 5 prime UTR variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2017 2017