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: rs1555648564
rs1555648564
1.000 17 60656807 frameshift variant TG/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 11 2008 2017
dbSNP: rs747947002
rs747947002
0.925 17 60656795 frameshift variant AA/-;A;AAA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 11 2008 2017