Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs342293
CTB-30L5.1
0.882 0.040 7 106731773 intron variant C/G snv 0.42 7
rs200748895
TNFSF13B
13 108308033 3 prime UTR variant GCTG/- del 2.0E-02 2
rs192022
C11orf65
11 108378047 intron variant C/G;T snv 5
rs4388979
USP30
12 109037207 intron variant G/A;T snv 1
rs6925716
CCDC162P
6 109276438 intron variant T/C snv 0.61 1
rs11618989 13 109836805 regulatory region variant C/T snv 7.8E-02 1
rs11841319 13 109840279 regulatory region variant C/T snv 7.8E-02 1
rs377602035
EGF
4 109937360 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins 1
rs11569142
EGF
4 110010783 intron variant G/T snv 1.1E-02 1
rs17127170
MXI1
10 110232464 intron variant T/A;C snv 1
rs2235989
DDO
6 110393381 intron variant A/T snv 0.45 0.47 1
rs4766566
CUX2
0.851 0.200 12 111269073 intron variant C/T snv 0.42 6
rs3809272
PHETA1
12 111362454 3 prime UTR variant G/A snv 0.28 1
rs4377346
MIR4435-2HG
2 111428267 intron variant T/C snv 0.20 1
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 18
rs739496
SH2B3 ; ATXN2
0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 10
rs11348701
ATXN2
12 111452430 3 prime UTR variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins 0.31 1
rs619010
ATXN2
12 111537019 intron variant A/G snv 0.37 1
rs749237684
BRAP
12 111650643 intron variant T/A snv 8.2E-04 1
rs59739601
NREP ; STARD4-AS1
5 111725320 intron variant A/G snv 0.13 1
rs56116444
STARD4-AS1 ; NREP
5 111726150 intron variant T/G snv 0.13 1
rs6490294
ACAD10
12 111752634 intron variant C/A snv 0.35 2
rs530203431
ALDH2
12 111810957 3 prime UTR variant A/G snv 9.1E-04 1
rs141043717
TMEM116
12 111933656 intron variant TT/-;T;TTT delins 0.19 1