Source: GWASDB

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1211375
rs1211375
LUC7L
1.000 0.040 16 190281 intron variant A/C;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 1 2013 2017
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 1 2013 2017
dbSNP: rs1010222
rs1010222
CALR
19 12937794 upstream gene variant A/G snv 0.70
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs11085824
rs11085824
GCDH
19 12890733 upstream gene variant A/G snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 1 2009 2017
dbSNP: rs11085825
rs11085825
GCDH
19 12896644 intron variant C/T snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs2293683
rs2293683
FARSA
19 12928470 non coding transcript exon variant A/G snv 0.65 0.64
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs855791
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2010 2018
dbSNP: rs130624
rs130624 		22 37042611 regulatory region variant G/T snv 0.47
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs1421312
rs1421312
TMPRSS6
22 37091770 intron variant A/G snv 0.45
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs2160906
rs2160906
TMPRSS6
22 37097138 intron variant G/A snv 0.17
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs2235320
rs2235320
KCTD17
22 37057216 intron variant G/T snv 9.5E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs2235324
rs2235324
TMPRSS6
22 37089684 missense variant T/C snv 0.38 0.40
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs228129
rs228129
LOC112268295
22 37032558 upstream gene variant A/G snv 0.48
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs228904
rs228904
TMPRSS6
22 37098774 intron variant A/G snv 0.17
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs2413450
rs2413450
TMPRSS6
22 37074184 intron variant T/C snv 0.61
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 1 2009 2017
dbSNP: rs4820268
rs4820268
TMPRSS6
0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 1 2009 2012
dbSNP: rs5756504
rs5756504
TMPRSS6
22 37071230 intron variant C/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs5994574
rs5994574 		22 32470947 upstream gene variant T/C snv 0.46
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs8141597
rs8141597
MPST
22 37028807 non coding transcript exon variant T/C snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs855788
rs855788
TMPRSS6
22 37078039 intron variant G/A snv 0.51
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 1 2012 2019