Disease: Severe speech delay ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs724159949
rs724159949 		0.827 0.240 21 37486563 stop gained C/T snv
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044519
rs797044519 		0.925 21 37478285 stop gained C/A;G;T snv
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520 		0.925 21 37505442 stop gained C/T snv
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044521
rs797044521 		0.925 21 37480768 frameshift variant A/- delins
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522 		0.925 21 37496119 frameshift variant AGAT/- delins
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523 		0.882 21 37480756 frameshift variant -/A delins
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044524
rs797044524 		0.925 21 37486513 missense variant A/T snv
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044525
rs797044525 		0.925 21 37490244 missense variant T/G snv
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044526
rs797044526 		0.925 21 37490393 missense variant C/T snv
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		0.700 1.000 1 2015 2015