Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879255626
rs879255626
TRIO
1.000 5 14394102 missense variant G/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 2 2016 2016
dbSNP: rs879255627
rs879255627
TRIO
1.000 5 14397112 missense variant C/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 2 2016 2016
dbSNP: rs879255628
rs879255628
TRIO
1.000 5 14374251 missense variant A/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 2 2016 2016
dbSNP: rs768858988
rs768858988
TRIO
1.000 5 14498161 missense variant G/A snv 3.2E-05 4.9E-05
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 1.000 2 2016 2016
dbSNP: rs771342869
rs771342869
TRIO
1.000 5 14482717 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 1.000 2 2016 2016
dbSNP: rs1258664728
rs1258664728
TRIO
1.000 5 14485152 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs756004023
rs756004023
TRIO
1.000 5 14387579 missense variant T/C snv 2.4E-05 2.1E-05
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0