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: rs1057518204
rs1057518204 		0.925 21 37480659 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555984304
rs1555984304 		1.000 21 37490340 frameshift variant C/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555985620
rs1555985620 		1.000 21 37493094 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555985642
rs1555985642 		1.000 21 37493100 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555990751
rs1555990751 		1.000 21 37505307 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs1555990816
rs1555990816 		1.000 21 37505344 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016
dbSNP: rs797044523
rs797044523 		0.882 21 37480756 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1990 2016