Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs7385804
TFR2
0.851 0.120 7 100638347 intron variant C/A snv 0.65 14
rs1799852
TF
3 133756878 synonymous variant C/T snv 0.13 0.11 5
rs8177240
TF
3 133758857 intron variant T/C;G snv 0.29 5
rs116009877 6 25715429 regulatory region variant G/A;T snv 4
rs9990333 3 196100334 intergenic variant C/T snv 0.42 4
rs13191659
LINC00240
6 27033276 intron variant C/G;T snv 4
rs6762719
TF
3 133761973 non coding transcript exon variant A/G snv 0.31 4
rs202056061
CARMIL1
6 25494109 intron variant AGTT/- delins 2.8E-02 2
rs111722075
CMAHP ; CARMIL1
6 25373818 intron variant C/T snv 0.11 2
rs2442120
DTWD2
5 118970884 intron variant A/C snv 0.98 2
rs150548770
ESM1 ; LOC102467081
5 55020802 intron variant T/C snv 5.4E-03 2
rs143130997
FIG4
6 109780207 intron variant G/A snv 5.9E-03 2
rs113507773
LOC105374986
6 26255511 upstream gene variant G/A snv 0.10 2
rs73373322
SEPTIN9
17 77385957 intron variant C/T snv 3.1E-02 2
rs181143083
ZDHHC14
6 157434218 intron variant T/A snv 7.5E-04 2
rs10101752 8 37125160 intergenic variant G/A snv 1.2E-02 1
rs111991936 7 23289983 regulatory region variant G/A snv 1.1E-02 1
rs147477420 11 33988237 TF binding site variant G/A snv 3.2E-03 1
rs3013795
ANTXRL
10 46313639 intron variant T/A;G snv 1
rs141555380
GAB3
X 154677735 3 prime UTR variant C/T snv 4.2E-02 1
rs4642515
HLA-DQB1
6 32664039 non coding transcript exon variant T/A;G snv 1