Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs635634 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 22
rs11556924
ZC3HC1
0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 21
rs174548
FADS2 ; FADS1
0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 17
rs7705526
TERT
0.776 0.240 5 1285859 intron variant C/A;T snv 15
rs112505971
ANKRD26
10 27068541 intron variant A/C;G snv 13
rs3123543
ATF3
1 212617344 intron variant T/A;C snv 13
rs3840870
COL1A1
17 50184820 3 prime UTR variant -/CTTG delins 13
rs35188965
SLC12A7
5 1104823 intron variant C/G;T snv 12
rs8179
CDK6
0.882 0.080 7 92606850 3 prime UTR variant T/A;C;G snv 8
rs9532434
COG6
0.807 0.120 13 39781776 intron variant T/A;C snv 8
rs10409243
S1PR2 ; DNMT1
19 10222312 3 prime UTR variant C/A;G;T snv 6
rs2239630
CEBPE
0.925 0.160 14 23120140 upstream gene variant A/C;G snv 6
rs2979489
RBPMS
8 30423317 intron variant G/A;C snv 6
rs34208856
HBS1L
6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins 6
rs4821544
NCF4-AS1 ; NCF4
0.925 0.040 22 36862461 intron variant T/A;C snv 6
rs10173538
BAZ2B ; MARCHF7
2 159712765 intron variant C/G;T snv 5
rs1144700
ATXN1
6 16744456 intron variant C/G;T snv 5
rs12600856 17 40007042 intergenic variant T/C;G snv 5
rs139707092
SPC25 ; NOSTRIN
2 168850753 intron variant TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT delins 5
rs145013566
PNKD
2 218297998 intron variant -/C ins 5
rs147694761
NPC1
18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 5
rs192022
C11orf65
11 108378047 intron variant C/G;T snv 5
rs1968252
LOC105372263
19 7782850 upstream gene variant G/A;T snv 5