Disease: Corpuscular Hemoglobin Concentration Mean
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs218265 4 54542832 intergenic variant T/C snv 0.21 10
rs7138216 12 4225142 intergenic variant G/C snv 0.22 2
rs74417235 5 154647656 intergenic variant A/G snv 7.3E-02 2
rs737092 20 57415349 regulatory region variant T/C snv 0.58 7
rs113809617
TMEM203 ; NDOR1
9 137205865 missense variant C/G snv 0.13 0.12 5
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs3811444
TRIM58
1 247876149 missense variant C/T snv 0.31 0.26 12
rs415895
SWAP70
11 9748015 missense variant C/G snv 0.62 0.61 6
rs7908745
MARCHF8
10 45458319 missense variant A/G snv 0.31 0.33 2
rs8176747
ABO
9 133255928 missense variant C/A;G snv 4.1E-06; 0.12 6
rs1434282
LINC01221
1 199041592 non coding transcript exon variant C/T snv 0.76 6
rs2227930
ATR
3 142558733 synonymous variant A/T snv 0.55 0.63 3
rs1193
RMND5A
2 86775106 3 prime UTR variant C/T snv 0.68 2
rs6803
ERAL1 ; MIR451B
17 28860771 3 prime UTR variant C/T snv 0.73 4
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02 5
rs8887
PLIN4 ; HDGFL2
1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 7
rs9389248
HBS1L
6 134961518 3 prime UTR variant T/C snv 0.45 2
rs964184
ZPR1
0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 47
rs140522
ODF3B
0.851 0.160 22 50532837 upstream gene variant T/A;C snv 11
rs3817621
KLF1
19 12887391 upstream gene variant G/C;T snv 0.25 2
rs198851
H4C3
6 26104404 downstream gene variant T/A;C;G snv 15
rs4916478 3 196195699 downstream gene variant C/A;G snv 2
rs532398216 16 182398 downstream gene variant TGAG/- delins 2.0E-03 5