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: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
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: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015