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: rs746593718
rs746593718 		1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1991 2016
dbSNP: rs757347274
rs757347274 		0.925 1 235470849 splice donor variant C/T snv 4.8E-05 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2013 2014