Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 ×
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: rs387906812
rs387906812 		0.882 0.320 22 23834152 missense variant G/A snv 7.0E-06
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 1.000 3 2012 2013
dbSNP: rs398122368
rs398122368 		0.925 0.040 22 23791772 missense variant G/A;C snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 1.000 3 2012 2013
dbSNP: rs1057517825
rs1057517825 		0.925 22 23834143 missense variant G/A snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 1.000 2 2013 2015
dbSNP: rs886039520
rs886039520 		1.000 22 23833681 missense variant C/T snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 1.000 3 2012 2013
dbSNP: rs875989800
rs875989800 		0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 1.000 1 2014 2014
dbSNP: rs1555877287
rs1555877287 		1.000 22 23803396 missense variant G/A snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 0
dbSNP: rs1555881567
rs1555881567 		0.925 0.160 22 23833655 missense variant C/G;T snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 0
dbSNP: rs797045989
rs797045989 		1.000 22 23833672 missense variant A/G snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 0