Disease: Red Blood Cell Count 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
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs13107325
SLC39A8
0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 34
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 24
rs17696736
NAA25
0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
rs198851
H4C3
6 26104404 downstream gene variant T/A;C;G snv 15
rs12509595 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 10
rs10857147 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 9
rs9472135
LOC107986598
0.925 0.120 6 43842065 intron variant T/A;C;G snv 9
rs11066188
HECTD4
0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 7
rs17630235
TRAFD1
0.925 0.120 12 112153882 downstream gene variant G/A;C snv 7
rs13125101 4 80253438 TF binding site variant G/A snv 0.24 6
rs7753826 0.925 0.120 6 26042011 upstream gene variant T/A;C snv 6
rs668459 6 139514552 intron variant C/T snv 0.51 5
rs139491786
SLC9A3R2
16 2036420 missense variant C/T snv 3.4E-03 3.5E-03 4
rs4712656
CASC15 ; NBAT1
1.000 0.040 6 22136033 non coding transcript exon variant G/A;C snv 4