Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 ×
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: rs1135401955
rs1135401955 		1.000 6 73003943 missense variant T/G snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0
dbSNP: rs1135401956
rs1135401956 		1.000 6 73105359 missense variant C/A snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0
dbSNP: rs1135401957
rs1135401957 		1.000 6 73133459 missense variant G/T snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0
dbSNP: rs1135401958
rs1135401958 		1.000 6 73111384 missense variant C/G snv
CUI: C4539851
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 		0.800 0