CPT1B, carnitine palmitoyltransferase 1B, 1375

N. diseases: 42; N. variants: 13
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: rs131758
rs131758 		22 50578653 3 prime UTR variant T/A snv 0.60
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs140514
rs140514 		22 50580150 intron variant A/G snv 0.44 0.38
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs140515
rs140515 		22 50576781 non coding transcript exon variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs470117
rs470117 		1.000 0.040 22 50571524 missense variant C/T snv 0.42 0.36
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012