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: rs746781699
rs746781699
1.000 12 50108042 frameshift variant AA/- delins 2.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2012 2017