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: rs1048512
rs1048512
KCNJ10 ; PIGM
3 0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1057519911
rs1057519911
MAPK1
10 0.776 0.160 22 21772875 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1059234
rs1059234
CDKN1A
10 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 0.010 1.000 1 2012 2012
dbSNP: rs1060555
rs1060555
MYDGF ; TNFAIP8L1
3 0.882 0.080 19 4652810 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10802996
rs10802996
EXO1
5 0.882 0.080 1 241847325 upstream gene variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs10815144
rs10815144
JAK2 ; INSL6
3 0.882 0.080 9 5010192 intron variant G/A snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs10893506
rs10893506
ST3GAL4
5 0.882 0.080 11 126406065 5 prime UTR variant T/A;C snv 6.4E-06; 0.41 0.010 1.000 1 2014 2014
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs1110839
rs1110839
PAX8 ; PAX8-AS1
6 0.807 0.120 2 113236840 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11125
rs11125
LGALS3
5 0.851 0.120 14 55145121 missense variant A/T snv 6.5E-02 5.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11202058
rs11202058
WAPL
3 0.882 0.080 10 86522854 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1126497
rs1126497
EPCAM
14 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1131445
rs1131445
IL16 ; STARD5
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1143630
rs1143630
IL1B
5 0.827 0.160 2 112834078 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11543848
rs11543848
EGFR
7 0.790 0.240 7 55161562 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs11568785
rs11568785
TGFBR1
5 0.882 0.080 9 99143552 intron variant A/G;T snv 7.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2019 2019