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: rs724159948
rs724159948
DYRK1A ; LOC105372797
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: rs724159948
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0