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
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 36
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 31
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
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41 25
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 23
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 21
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
rs562338 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 20
rs148636776
ATXN2 ; SH2B3
0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 18
rs3764261 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 17
rs646776
CELSR2
0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 15
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 14
rs11556924
ZC3HC1
0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 14
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 13
rs63750459
ABCC6
0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 13
rs72653762
ABCC6
0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 13
rs7528419
CELSR2
0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 13
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12 13
rs72653744
ABCC6
0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 12
rs72664209
ABCC6
0.827 0.240 16 16173283 splice donor variant C/A snv 8.0E-06; 1.2E-04 1.7E-04 12