Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 ×
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: rs1554121872
rs1554121872 		0.882 0.040 5 150250270 missense variant T/G snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs1554121875
rs1554121875 		0.882 0.040 5 150250281 missense variant T/C snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs1554122129
rs1554122129 		0.882 0.040 5 150252032 missense variant T/A snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs1554122526
rs1554122526 		0.882 0.040 5 150256811 missense variant A/G snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 4 2015 2018
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 0
dbSNP: rs864309606
rs864309606 		1.000 5 150250800 missense variant G/A snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 1.000 4 2015 2018
dbSNP: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 0
dbSNP: rs1554121878
rs1554121878 		1.000 5 150250310 splice acceptor variant C/T snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 0