Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 31
rs13107325
SLC39A8
0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 30
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 29
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 29
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41 25
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 23
rs72653706
ABCC6
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 21
rs1333049
CDKN2B-AS1
0.614 0.520 9 22125504 intron variant G/C snv 0.41 21
rs12579302
ATP2B1
0.851 0.120 12 89656726 intron variant A/G snv 0.15 19
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 19
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 18
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 18
rs11066280
HECTD4
0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 18
rs3764261 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 17
rs12229654 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 14
rs142433332
DARS2
0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 14
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs1558902
FTO
0.827 0.120 16 53769662 intron variant T/A snv 0.31 14
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 14
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs11556924
ZC3HC1
0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 14