Source: CURATED ×
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 73
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 64
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 43
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 36
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 29
rs780093
GCKR
0.763 0.240 2 27519736 intron variant T/C snv 0.68 25
rs2074755
BAZ1B
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 20
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
rs10774625
ATXN2
0.763 0.320 12 111472415 intron variant A/G snv 0.66 11
rs9895661
BCAS3
0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 10
rs2068834
ZNF512
0.925 0.120 2 27616672 intron variant T/C snv 0.28 10
rs1260333 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 9
rs2079742
BCAS3
0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 9
rs2244608
HNF1A ; HNF1A-AS1
0.882 0.160 12 120979185 intron variant A/G snv 0.29 9
rs9472135
LOC107986598
0.925 0.120 6 43842065 intron variant T/A;C;G snv 9
rs17145750
MLXIPL
0.925 0.120 7 73612048 intron variant C/A;T snv 9
rs17145738
TBL2
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11 9
rs11099098 0.925 0.120 4 80248758 intergenic variant G/C;T snv 8
rs4766578
ATXN2
0.851 0.200 12 111466567 intron variant T/A snv 0.66 8
rs1919128
C2orf16
0.882 0.120 2 27578892 missense variant A/G snv 0.30 0.24 8
rs3749147
GPN1 ; CCDC121
0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20 8
rs17050272
LOC105373585
0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 8
rs1051921
MLXIPL
0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15 8
rs4014195 0.882 0.200 11 65739351 intergenic variant C/G snv 0.31 7
rs7691759 0.882 0.120 4 9686390 intron variant T/A;C snv 7