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: rs1064793083
rs1064793083 		0.882 0.080 8 60828682 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554588675
rs1554588675 		1.000 8 60781137 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554599036
rs1554599036 		1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465 		0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554602564
rs1554602564 		1.000 8 60845311 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs875989879
rs875989879 		0.925 0.080 8 60853017 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166 		1.000 8 60742366 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016