OTUD6B, OTU deubiquitinase 6B, 51633

N. diseases: 76; N. variants: 5
Disease: Macrotia ×
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: rs1064797102
rs1064797102 		0.827 0.120 8 91071136 splice acceptor variant A/G snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs759317757
rs759317757 		0.807 0.280 8 91078416 frameshift variant TTAAC/- delins
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0