Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 ×
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: rs724159949
rs724159949 		0.827 0.240 21 37486563 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 4 2014 2015
dbSNP: rs724159948
rs724159948 		1.000 21 37490273 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 3 2015 2017
dbSNP: rs1555984461
rs1555984461 		1.000 21 37490462 splice region variant AGTA/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2016 2016
dbSNP: rs1555985649
rs1555985649 		1.000 21 37493102 missense variant C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2015 2015
dbSNP: rs724159953
rs724159953 		1.000 21 37505352 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2015 2017
dbSNP: rs797044520
rs797044520 		0.925 21 37505442 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 2 2015 2016
dbSNP: rs1057519628
rs1057519628 		1.000 21 37505531 frameshift variant C/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2012 2012
dbSNP: rs1555984064
rs1555984064 		1.000 21 37490164 splice region variant CTCTT/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2016 2016
dbSNP: rs1569371303
rs1569371303 		1.000 21 37486616 splice donor variant T/C snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs780441716
rs780441716 		1.000 21 37490201 stop gained C/T snv 4.0E-06
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2017 2017
dbSNP: rs797044519
rs797044519 		0.925 21 37478285 stop gained C/A;G;T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs797044521
rs797044521 		0.925 21 37480768 frameshift variant A/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522 		0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523 		0.882 21 37480756 frameshift variant -/A delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs797044524
rs797044524 		0.925 21 37486513 missense variant A/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525 		0.925 21 37490244 missense variant T/G snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs797044526
rs797044526 		0.925 21 37490393 missense variant C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2015 2015
dbSNP: rs797045041
rs797045041 		1.000 21 37505443 missense variant G/A snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2016 2016
dbSNP: rs797045042
rs797045042 		1.000 21 37496180 frameshift variant -/G delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 1.000 1 2016 2016
dbSNP: rs1039571136
rs1039571136 		1.000 21 37490442 missense variant C/A;T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1057516030
rs1057516030 		0.807 0.280 21 37480785 stop gained -/A delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1057518204
rs1057518204 		0.925 21 37480659 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1057519402
rs1057519402 		1.000 21 37478266 frameshift variant CTTGA/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1064793546
rs1064793546 		1.000 21 37478262 frameshift variant CT/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1555979158
rs1555979158 		1.000 21 37478283 stop gained -/A delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0