DLG3, discs large MAGUK scaffold protein 3, 1741

N. diseases: 144; N. variants: 11
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder) ×
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: rs149595793
rs149595793 		1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.700 0
dbSNP: rs398122846
rs398122846 		1.000 X 70451967 frameshift variant -/C delins
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.700 0
dbSNP: rs398122847
rs398122847 		1.000 X 70454284 stop gained C/G snv
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.700 0
dbSNP: rs587777359
rs587777359 		1.000 X 70445559 splice donor variant G/C snv
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.700 0
dbSNP: rs587777360
rs587777360 		1.000 X 70450784 splice donor variant G/C snv
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.700 0