KLHDC7B, kelch domain containing 7B, 113730

N. diseases: 11; N. variants: 4
Disease: Corpuscular Hemoglobin Concentration Mean ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs131778
rs131778 		22 50550897 3 prime UTR variant A/G snv 0.50
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs131779
rs131779 		22 50549764 missense variant A/C;G snv 0.63
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs140519
rs140519 		22 50549633 synonymous variant G/T snv 0.48 0.41
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012