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
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs130624 22 37042611 regulatory region variant G/T snv 0.47 6
rs140522
ODF3B
0.851 0.160 22 50532837 upstream gene variant T/A;C snv 11
rs1421312
TMPRSS6
22 37091770 intron variant A/G snv 0.45 4
rs228129
LOC112268295
22 37032558 upstream gene variant A/G snv 0.48 6
rs470119
TYMP
22 50528485 non coding transcript exon variant T/C;G snv 0.61; 8.2E-06 4
rs4820268
TMPRSS6
0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 14
rs5756504
TMPRSS6
22 37071230 intron variant C/G;T snv 5
rs5756506
TMPRSS6
22 37071352 intron variant G/A;C snv 4
rs5756825
H1-0
22 37803943 upstream gene variant T/C snv 0.58 2
rs7287312 22 50649753 intergenic variant T/A snv 3.3E-02 2
rs8141597
MPST
22 37028807 non coding transcript exon variant T/C snv 0.31 4
rs855788
TMPRSS6
22 37078039 intron variant G/A snv 0.51 4
rs9619658
TMPRSS6
22 37100807 intron variant C/G;T snv 3
rs2834655
RUNX1
21 34866210 intron variant G/A snv 0.28 3
rs151305716
ZNF217
20 53605567 intron variant C/T snv 8.1E-03 3
rs159058
NOL4L ; LOC101929698
20 32520305 intron variant A/C;T snv 4
rs6014993 20 57416581 regulatory region variant A/G snv 0.58 5
rs731499
OSER1-DT ; OSER1
20 44210821 upstream gene variant G/A snv 0.38 2
rs737092 20 57415349 regulatory region variant T/C snv 0.58 7
rs1010222
CALR
19 12937794 upstream gene variant A/G snv 0.70 3
rs10415135
ZBTB7A
19 4061546 intron variant C/T snv 0.23 3
rs11085824
GCDH
19 12890733 upstream gene variant A/G snv 0.31 4
rs11085825
GCDH
19 12896644 intron variant C/T snv 0.31 3
rs11666770
MPND
19 4351655 intron variant G/C snv 0.22 2