Disease: MENTAL RETARDATION, X-LINKED 72 ×
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: rs1557314191
rs1557314191 		1.000 0.080 X 155260886 stop gained C/A snv
CUI: C1846038
Disease: MENTAL RETARDATION, X-LINKED 72
MENTAL RETARDATION, X-LINKED 72 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267606995
rs267606995 		1.000 0.080 X 155264268 stop gained G/T snv
CUI: C1846038
Disease: MENTAL RETARDATION, X-LINKED 72
MENTAL RETARDATION, X-LINKED 72 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776734
rs587776734 		1.000 0.080 X 155264073 splice donor variant C/T snv
CUI: C1846038
Disease: MENTAL RETARDATION, X-LINKED 72
MENTAL RETARDATION, X-LINKED 72 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0