Source: ALL

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: rs1035989
rs1035989
FAM222B
17 28816792 intron variant T/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11650788
rs11650788
FAM222B
17 28847505 intron variant T/A snv 0.25
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs11652272
rs11652272
FAM222B
17 28840955 intron variant C/G snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11658884
rs11658884
FAM222B
17 28805724 intron variant G/A snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12453504
rs12453504
FAM222B
17 28792506 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12946844
rs12946844
FAM222B
17 28843138 intron variant C/G;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs12946844
rs12946844
FAM222B
17 28843138 intron variant C/G;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs17721223
rs17721223
FAM222B
17 28839688 intron variant A/T snv 2.5E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2043031
rs2043031
FAM222B
17 28758546 synonymous variant A/G snv 0.21 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2043032
rs2043032
FAM222B
17 28809674 intron variant A/G snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2046759
rs2046759
FAM222B
17 28811799 intron variant T/C snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs28847895
rs28847895
FAM222B
17 28845502 intron variant T/C;G snv 0.26
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs35033748
rs35033748
FAM222B
17 28852572 intron variant T/C snv 0.26
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs35033748
rs35033748
FAM222B
17 28852572 intron variant T/C snv 0.26
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs4262997
rs4262997
FAM222B ; RPL31P58
17 28802544 non coding transcript exon variant A/G snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4794836
rs4794836
FAM222B
17 28755692 downstream gene variant C/G snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4795457
rs4795457
FAM222B
17 28760911 intron variant C/T snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4795459
rs4795459
FAM222B
17 28786708 intron variant G/C;T snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4795463
rs4795463
FAM222B
17 28819371 intron variant G/C snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4795464
rs4795464
FAM222B
17 28819479 intron variant G/C snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4795465
rs4795465
FAM222B
17 28824480 intron variant C/T snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs57583458
rs57583458
FAM222B
17 28779752 intron variant TAAATAAATAAATAAATAAATAAATAAA/-;TAAATAAATAAA;TAAATAAATAAATAAA;TAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA delins
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs7215000
rs7215000
FAM222B
17 28761418 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7215310
rs7215310
FAM222B
17 28761608 intron variant C/A snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7215310
rs7215310
FAM222B
17 28761608 intron variant C/A snv 0.19
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2017 2017