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: rs855791
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 2 2012 2013
dbSNP: rs12216125
rs12216125 		0.925 0.120 6 25997230 intron variant C/T snv 0.26
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs129128
rs129128
H2AC6 ; H2BC4
6 26125114 intron variant C/T snv 0.91
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs1541252
rs1541252
ATP2B4
1 203682799 5 prime UTR variant T/A;C snv
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2013 2013
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs2160906
rs2160906
TMPRSS6
22 37097138 intron variant G/A snv 0.17
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs2213169
rs2213169
HBE1 ; HBG2
11 5281833 intron variant G/A;T snv 4.2E-02
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2013 2013
dbSNP: rs2266928
rs2266928
CAPN15
16 530124 intron variant C/A;G snv
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2013 2013
dbSNP: rs228904
rs228904
TMPRSS6
22 37098774 intron variant A/G snv 0.17
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs4820268
rs4820268
TMPRSS6
0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs4895441
rs4895441
LOC105378010
0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs7203560
rs7203560
NPRL3
1.000 0.080 16 134391 intron variant T/G snv 2.0E-02
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2013 2013
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs837763
rs837763
LOC107984842
16 88787321 upstream gene variant C/G;T snv
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs857725
rs857725
SPTA1
1 158638145 stop gained T/A;G snv 4.0E-06; 0.28
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs9376092
rs9376092
LOC105378010
0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs9494145
rs9494145 		0.925 0.080 6 135111414 intergenic variant T/A;C snv
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs950488
rs950488
LOC107985213
1 158490185 intron variant C/A snv 0.19
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs9937239
rs9937239 		16 87073514 downstream gene variant G/A;C snv
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012