Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 ×
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: rs1060499655
rs1060499655 		1.000 1 244054373 frameshift variant C/- del
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs1064792999
rs1064792999 		1.000 1 244054357 stop gained C/A;T snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs1085307108
rs1085307108 		1.000 1 244054717 frameshift variant AG/- del
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs1135401770
rs1135401770 		1.000 1 244053916 stop gained C/G;T snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs1553270599
rs1553270599 		1.000 1 244055075 missense variant T/C snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs1553270634
rs1553270634 		1.000 1 244055218 missense variant C/T snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs1553270640
rs1553270640 		1.000 1 244055267 missense variant A/C snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs1558149913
rs1558149913 		1.000 1 244055165 missense variant G/A snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs398122406
rs398122406 		1.000 1 244054171 stop gained G/T snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs750922282
rs750922282 		1.000 1 244055164 missense variant C/A;T snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs797044885
rs797044885 		0.925 1 244055156 missense variant A/G snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs869312689
rs869312689 		0.925 0.160 1 244053934 missense variant T/C snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0
dbSNP: rs875989786
rs875989786 		1.000 1 244054957 stop gained C/T snv
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.700 0