Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 ×
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: rs1554401434
rs1554401434 		1.000 7 69899331 frameshift variant -/GCCCC delins
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs1554480537
rs1554480537 		1.000 7 70763073 stop gained C/T snv
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs1563183469
rs1563183469 		0.925 0.120 7 70766245 missense variant A/C snv
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs767529359
rs767529359 		1.000 7 70764832 missense variant C/A;T snv 2.1E-04
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs864321694
rs864321694 		1.000 7 70762983 frameshift variant AA/- delins
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs869312878
rs869312878 		0.882 0.160 7 70766130 frameshift variant -/C delins
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0