Disease: Hemoglobin measurement
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
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs198851
H4C3
6 26104404 downstream gene variant T/A;C;G snv 15
rs4820268
TMPRSS6
0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 14
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 14
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24 13
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs3811444
TRIM58
1 247876149 missense variant C/T snv 0.31 0.26 12
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 11
rs17476364
HK1
10 69334748 intron variant T/C snv 6.4E-02 8
rs129128
H2BC4 ; H2AC6
6 26125114 intron variant C/T snv 0.91 7
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 7
rs8887
PLIN4 ; HDGFL2
1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 7
rs130624 22 37042611 regulatory region variant G/T snv 0.47 6
rs144861591 6 26072764 intergenic variant C/T snv 3.8E-02 6
rs147233090
CATSPER2P1
0.925 0.040 15 43735849 intron variant C/T snv 1.7E-02 6
rs218237 4 54528005 intergenic variant C/T snv 0.18 6
rs228129
LOC112268295
22 37032558 upstream gene variant A/G snv 0.48 6
rs2413450
TMPRSS6
22 37074184 intron variant T/C snv 0.61 6
rs13219787
H2AC17 ; H2BC17
6 27893892 upstream gene variant G/A;T snv 3.9E-02; 2.4E-04 5
rs13339636
FAM234A
16 248589 intron variant A/G snv 3.8E-02 5
rs2236496
RCL1
9 4844265 intron variant T/C snv 0.19 5
rs3218097
CCND3
6 41937537 intron variant G/A;T snv 5