Source: CLINVAR

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: rs1039571136
rs1039571136
DYRK1A ; LOC105372797
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
DYRK1A ; LOC105372797
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
DYRK1A ; LOC105372797
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
DYRK1A
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
DYRK1A
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
DYRK1A
1.000 21 37478283 stop gained -/A delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1555980234
rs1555980234
DYRK1A ; LOC105372797
1.000 21 37480671 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1555984343
rs1555984343
DYRK1A ; LOC105372797
1.000 21 37490370 missense variant A/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1555984433
rs1555984433
DYRK1A ; LOC105372797
1.000 21 37490447 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1555985554
rs1555985554
DYRK1A
1.000 21 37493045 missense variant A/G snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1555990958
rs1555990958
DYRK1A
1.000 21 37505448 frameshift variant C/- del
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1569370887
rs1569370887
DYRK1A ; LOC105372797
1.000 21 37486483 frameshift variant -/T delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1569380375
rs1569380375
DYRK1A
1.000 21 37493037 missense variant T/A snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs587776929
rs587776929
DYRK1A
1.000 21 37472815 frameshift variant TA/- delins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs587776930
rs587776930
DYRK1A
1.000 21 37493164 splice donor variant G/A snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs724159955
rs724159955
DYRK1A
1.000 21 37512002 missense variant C/A snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs797045539
rs797045539
DYRK1A
1.000 21 37505341 frameshift variant -/T ins
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs797045540
rs797045540
DYRK1A ; LOC105372797
1.000 21 37490432 missense variant T/G snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs869312708
rs869312708
DYRK1A
1.000 21 37506191 stop gained C/T snv
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		0.700 0
dbSNP: rs1057519628
rs1057519628
DYRK1A
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
DYRK1A ; LOC105372797
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
DYRK1A ; LOC105372797
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
DYRK1A ; LOC105372797
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
DYRK1A
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