Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 ×
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: rs786205865
rs786205865 		1.000 20 63493155 missense variant C/G snv
CUI: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		0.800 0
dbSNP: rs786205866
rs786205866 		0.807 0.160 20 63495062 missense variant C/T snv
CUI: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		0.800 0
dbSNP: rs1405800415
rs1405800415 		0.925 20 63490687 missense variant G/A snv 4.1E-06
CUI: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		0.700 0
dbSNP: rs1555883505
rs1555883505 		0.827 0.160 20 63490712 missense variant G/A snv
CUI: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		0.700 0