LAGE3, L antigen family member 3, 8270

N. diseases: 56; N. variants: 3
Disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED ×
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: rs1557211209
rs1557211209 		1.000 X 154477966 missense variant A/G snv
CUI: C4538784
Disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
GALLOWAY-MOWAT SYNDROME 2, X-LINKED 		0.800 0
dbSNP: rs1557211306
rs1557211306 		1.000 X 154478284 missense variant C/A snv
CUI: C4538784
Disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
GALLOWAY-MOWAT SYNDROME 2, X-LINKED 		0.800 0
dbSNP: rs1557211410
rs1557211410 		1.000 X 154478727 splice donor variant C/T snv
CUI: C4538784
Disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
GALLOWAY-MOWAT SYNDROME 2, X-LINKED 		0.700 0