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: rs1554794342
rs1554794342 		1.000 10 49530769 frameshift variant CTGCTGG/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016
dbSNP: rs185142838
rs185142838 		0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016
dbSNP: rs202080674
rs202080674 		0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016
dbSNP: rs376526037
rs376526037 		0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1992 2016