TMC6, transmembrane channel like 6, 11322

N. diseases: 41; N. variants: 17
Disease: Red Blood Cell Count measurement ×
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: rs2748427
rs2748427 		17 78125783 missense variant A/G snv 0.24 0.29
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs2748424
rs2748424 		17 78128784 intron variant C/G snv 0.26
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018