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: rs3738894
rs3738894
PRKCE
4 0.882 0.080 2 46187030 3 prime UTR variant G/A snv 1.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 1.000 1 2020 2020
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs10509670
rs10509670
PLCE1
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs115510139
rs115510139
COL6A3
6 0.827 0.120 2 237331726 intron variant A/T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs11674595
rs11674595
IL1R2
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs2031920
rs2031920
CYP2E1 ; LOC107984284
20 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
IL1R2
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs315919
rs315919
IL1RN
5 0.851 0.120 2 113118636 intron variant T/G snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs3181052
rs3181052
IL1RN
5 0.851 0.120 2 113128472 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs452204
rs452204
IL1RN
7 0.807 0.200 2 113131484 intron variant G/A snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs6720283
rs6720283
COL6A3
4 0.882 0.120 2 237401239 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs7436
rs7436
COL6A3
3 0.925 0.080 2 237324168 3 prime UTR variant T/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs4767364
rs4767364
NAA25
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs10931936
rs10931936
CASP8
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs11548103
rs11548103
S100A14
4 0.882 0.080 1 153615864 splice region variant C/T snv 0.40 0.39 0.010 1.000 1 2017 2017
dbSNP: rs13016963
rs13016963
FLACC1
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2244438
rs2244438
TRAK2
4 0.882 0.080 2 201387816 missense variant G/A;T snv 0.29; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2320615
rs2320615
NAF1
3 0.925 0.080 4 163148797 intron variant A/G snv 0.78 0.010 1.000 1 2017 2017