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: rs724159949
rs724159949
DYRK1A ; LOC105372797
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 1 2015 2015
dbSNP: rs797044519
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv
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: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 1 2015 2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
0.925 21 37486513 missense variant A/T snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 1 2015 2015
dbSNP: rs797044526
rs797044526
DYRK1A ; LOC105372797
0.925 21 37490393 missense variant C/T snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 1 2015 2015