Disease: MENTAL RETARDATION, X-LINKED 93 (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: rs137853272
rs137853272 		1.000 0.120 X 80677232 missense variant T/C;G snv
CUI: C1970841
Disease: MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 93 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2007 2007
dbSNP: rs1057518650
rs1057518650 		1.000 0.120 X 80745592 stop gained G/A snv
CUI: C1970841
Disease: MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 93 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569290395
rs1569290395 		1.000 0.120 X 80793697 missense variant C/T snv
CUI: C1970841
Disease: MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 93 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882185
rs730882185 		1.000 0.120 X 80692088 splice donor variant C/A snv
CUI: C1970841
Disease: MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 93 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882186
rs730882186 		1.000 0.120 X 80735165 frameshift variant -/T delins
CUI: C1970841
Disease: MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 93 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863224851
rs863224851 		1.000 0.120 X 80682607 missense variant A/C snv 5.5E-06
CUI: C1970841
Disease: MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 93 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0