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
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 24
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
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
rs1532085
ALDH1A2
0.882 0.080 15 58391167 intron variant A/G;T snv 13
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
rs10224002
PRKAG2
0.925 0.080 7 151717955 intron variant A/G snv 0.31 12
rs3811444
TRIM58
1 247876149 missense variant C/T snv 0.31 0.26 12
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 12
rs10224210
PRKAG2
1.000 0.040 7 151716108 intron variant T/C snv 0.21 9
rs9472135
LOC107986598
0.925 0.120 6 43842065 intron variant T/A;C;G snv 9
rs2075672
TFR2 ; ACTL6B
7 100642673 intron variant A/G snv 0.65 8
rs129128
H2BC4 ; H2AC6
6 26125114 intron variant C/T snv 0.91 7
rs198846
H1-6
6 26107235 downstream gene variant A/G;T snv 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
rs9376090
HBS1L
6 135090090 intron variant T/C snv 0.19 7
rs10480300
PRKAG2
0.925 0.120 7 151708919 intron variant C/T snv 0.24 6