TBC1D20, TBC1 domain family member 20, 128637

N. diseases: 79; N. variants: 4
Disease: WARBURG MICRO SYNDROME 4 ×
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: rs587777157
rs587777157 		1.000 20 447946 stop gained G/A snv 4.0E-06
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.700 0
dbSNP: rs587777158
rs587777158 		1.000 20 445095 stop gained G/A snv
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.700 0
dbSNP: rs587777159
rs587777159 		1.000 20 442028 frameshift variant GT/- delins
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.700 0
dbSNP: rs587777160
rs587777160 		1.000 20 440344 stop gained C/T snv
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.700 0