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: rs724159950
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0