Disease: Dysmorphic features ×
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: rs1057518345
rs1057518345 		0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs1555809919
rs1555809919 		1.000 20 50892427 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs1555810308
rs1555810308 		1.000 20 50893377 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs587777526
rs587777526 		0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs886041116
rs886041116 		0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017