SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
Disease: Erythrocyte Lactate Transporter Defect ×
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: rs80358222
rs80358222 		1.000 0.080 1 112917796 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs72552271
rs72552271 		1.000 0.080 1 112913980 missense variant C/T snv 1.2E-04 3.9E-04
CUI: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000