Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 ×
Source: CURATED ×
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: rs1293246328
rs1293246328 		1.000 1 155480700 missense variant C/A snv
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.800 1.000 4 2012 2017
dbSNP: rs1553241570
rs1553241570 		1.000 1 155342040 missense variant C/G snv
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.800 1.000 4 2012 2017
dbSNP: rs539982914
rs539982914 		1.000 1 155479044 missense variant A/G snv 4.0E-06
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 1.000 4 2012 2017
dbSNP: rs1553242856
rs1553242856 		1.000 1 155347690 frameshift variant -/CCTTG delins
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs1553245038
rs1553245038 		1.000 1 155357741 frameshift variant AC/TGAGAA delins
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs1553247374
rs1553247374 		1.000 1 155370889 stop gained C/A snv
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs1553265189
rs1553265189 		1.000 1 155479165 frameshift variant A/- del
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs1553265703
rs1553265703 		1.000 1 155480447 frameshift variant TT/A delins
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs1558148010
rs1558148010 		1.000 1 155479203 frameshift variant CTTT/- delins
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs749494995
rs749494995 		1.000 1 155378375 missense variant C/T snv 5.6E-05 2.1E-05
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs753029013
rs753029013 		1.000 1 155354514 missense variant C/T snv 8.0E-06
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs753734834
rs753734834 		1.000 1 155438830 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0
dbSNP: rs775592405
rs775592405 		1.000 1 155337700 frameshift variant -/T delins 4.0E-05 2.8E-05
CUI: C4540478
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 		0.700 0